2-224635009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224635009
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224635009
    reference: chr 2
allele count: 2
allele frequency: 1.207729468599034e-4
allele num: 16560
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.292-4942C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.*15+3021C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.183-4942C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.88-4942C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.325C>T
  hgvsp: ENST00000409375.1:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.185-4942C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.292-4942C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.292-4942C>T
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu109Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-224635048-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224635048
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224635048
    reference: chr 2
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.292-6T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.185-4981T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.292-4981T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.183-4981T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.88-4981T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.292-4981T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.*15+2982T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.292-4981T>C
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: c.292-6T>C
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-224635058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224635058
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224635058
    reference: chr 2
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.183-4991C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.185-4991C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.*15+2972C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.88-4991C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.292-4991C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.292-4991C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.292-16C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.292-4991C>T
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-224638016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224638016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224638016
    reference: chr 2
allele count: 6
allele frequency: 3.818251240931653e-4
allele num: 15714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+4390C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.291+2602C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.291+2602C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.291+2602C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+4392C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.291+2602C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+2750C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.*15+14C>T
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-224638030-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224638030
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224638030
    reference: chr 2
allele count: 34
allele frequency: 2.171413973687572e-3
allele num: 15658
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.291+2588G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.291+2588G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+2736G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+4378G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+4376G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.*15G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.291+2588G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.291+2588G>T
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
hgvs: c.*15G>T
num of homozygotes: 1
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-224638056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224638056
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224638056
    reference: chr 2
allele count: 3
allele frequency: 1.92628740208039e-4
allele num: 15574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.304G>A
  hgvsp: ENSP00000406686.1:p.Ala102Thr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.291+2562G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.291+2562G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+2710G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.291+2562G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+4350G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+4352G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.291+2562G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.304G>A
  hgvsp: ENSP00000401705.1:p.Ala102Thr
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala102Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-224638079-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224638079
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224638079
    reference: chr 2
allele count: 1
allele frequency: 6.444960041247745e-5
allele num: 15516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.292-11A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.291+2539A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+2687A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.291+2539A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+4329A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.291+2539A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.292-11A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+4327A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.291+2539A>G
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

2-224638091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224638091
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224638091
    reference: chr 2
allele count: 1
allele frequency: 6.459948320413436e-5
allele num: 15480
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.291+2527C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+4317C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.292-23C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.291+2527C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+4315C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.291+2527C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.292-23C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+2675C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.291+2527C>T
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

2-224638106-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224638106
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224638106
    reference: chr 2
allele count: 1
allele frequency: 6.476683937823834e-5
allele num: 15440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+2660T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.292-38T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.291+2512T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+4302T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.291+2512T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.292-38T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+4300T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.291+2512T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.291+2512T>C
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-224640579-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640579
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640579
    reference: chr 2
allele count: 1
allele frequency: 1.129203459879401e-5
allele num: 88558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1829C>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.291+39C>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.291+39C>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1827C>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.291+39C>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.291+39C>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.291+39C>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.291+39C>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+187C>A
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/2-224640582-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640582
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640582
    reference: chr 2
allele count: 1
allele frequency: 1.121704991587212e-5
allele num: 89150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.291+36G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.291+36G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.291+36G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.291+36G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+184G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.291+36G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1826G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1824G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.291+36G>T
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-224640599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640599
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640599
    reference: chr 2
allele count: 2
allele frequency: 2.08385429690756e-5
allele num: 95976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.291+19G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1807G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.291+19G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+167G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.291+19G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1809G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.291+19G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.291+19G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.291+19G>A
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24545
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6305
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-224640600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640600
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640600
    reference: chr 2
allele count: 3
allele frequency: 3.079765937788728e-5
allele num: 97410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.291+18C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1808C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+166C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1806C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.291+18C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.291+18C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.291+18C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.291+18C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.291+18C>T
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-224640605-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640605
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640605
    reference: chr 2
allele count: 2
allele frequency: 1.950382274925885e-5
allele num: 102544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1801C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.291+13C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.291+13C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.291+13C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1803C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.291+13C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.291+13C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+161C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.291+13C>G
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30987
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-224640608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640608
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640608
    reference: chr 2
allele count: 1
allele frequency: 9.507872518445273e-6
allele num: 105176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1798G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.291+10G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+158G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.291+10G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.291+10G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.291+10G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1800G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.291+10G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.291+10G>A
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum

2-224640618-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640618
    reference: chr 2
allele count: 1
allele frequency: 8.970540744196061e-6
allele num: 111476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.291T>A
  hgvsp: ENSP00000397155.1:p.Asn97Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+148T>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1790T>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.291T>A
  hgvsp: ENSP00000388738.2:p.Asn97Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.291T>A
  hgvsp: ENSP00000401705.1:p.Asn97Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1788T>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.291T>A
  hgvsp: ENSP00000406686.1:p.Asn97Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.291T>A
  hgvsp: ENSP00000379891.2:p.Asn97Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.291T>A
  hgvsp: ENSP00000387199.1:p.Asn97Lys
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn97Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-224640626-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640626
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640626
    reference: chr 2
allele count: 1
allele frequency: 8.732404205525866e-6
allele num: 114516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+140T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.283T>C
  hgvsp: ENSP00000401705.1:p.Phe95Leu
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.283T>C
  hgvsp: ENSP00000387199.1:p.Phe95Leu
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.283T>C
  hgvsp: ENSP00000397155.1:p.Phe95Leu
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1782T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.283T>C
  hgvsp: ENSP00000388738.2:p.Phe95Leu
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.283T>C
  hgvsp: ENSP00000406686.1:p.Phe95Leu
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.283T>C
  hgvsp: ENSP00000379891.2:p.Phe95Leu
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1780T>C
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe95Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-224640647-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640647
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640647
    reference: chr 2
allele count: 5
allele frequency: 4.223757792833128e-5
allele num: 118378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.262G>C
  hgvsp: ENSP00000401705.1:p.Val88Leu
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.262G>C
  hgvsp: ENSP00000388738.2:p.Val88Leu
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.262G>C
  hgvsp: ENSP00000397155.1:p.Val88Leu
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.262G>C
  hgvsp: ENSP00000387199.1:p.Val88Leu
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+119G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1761G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.262G>C
  hgvsp: ENSP00000406686.1:p.Val88Leu
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1759G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.262G>C
  hgvsp: ENSP00000379891.2:p.Val88Leu
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val88Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-224640647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640647
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640647
    reference: chr 2
allele count: 4
allele frequency: 3.379006234266502e-5
allele num: 118378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.262G>A
  hgvsp: ENSP00000401705.1:p.Val88Met
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.262G>A
  hgvsp: ENSP00000406686.1:p.Val88Met
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.262G>A
  hgvsp: ENSP00000388738.2:p.Val88Met
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.262G>A
  hgvsp: ENSP00000397155.1:p.Val88Met
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.262G>A
  hgvsp: ENSP00000379891.2:p.Val88Met
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+119G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1761G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1759G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.262G>A
  hgvsp: ENSP00000387199.1:p.Val88Met
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val88Met
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-224640648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640648
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640648
    reference: chr 2
allele count: 7
allele frequency: 5.909167651527942e-5
allele num: 118460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.261C>T
  hgvsp: ENST00000409375.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.261C>T
  hgvsp: ENST00000443700.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1760C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+118C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.261C>T
  hgvsp: ENST00000446015.2:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1758C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.261C>T
  hgvsp: ENST00000396654.2:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.261C>T
  hgvsp: ENST00000415298.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.261C>T
  hgvsp: ENST00000423110.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11198
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr87Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

2-224640652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640652
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640652
    reference: chr 2
allele count: 2
allele frequency: 1.685260709831811e-5
allele num: 118676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.257G>A
  hgvsp: ENSP00000387199.1:p.Arg86His
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.257G>A
  hgvsp: ENSP00000401705.1:p.Arg86His
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.257G>A
  hgvsp: ENSP00000397155.1:p.Arg86His
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.257G>A
  hgvsp: ENSP00000379891.2:p.Arg86His
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1756G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.257G>A
  hgvsp: ENSP00000388738.2:p.Arg86His
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1754G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.257G>A
  hgvsp: ENSP00000406686.1:p.Arg86His
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+114G>A
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg86His
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-224640653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640653
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640653
    reference: chr 2
allele count: 2
allele frequency: 1.684295627568551e-5
allele num: 118744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.256C>T
  hgvsp: ENSP00000387199.1:p.Arg86Cys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.256C>T
  hgvsp: ENSP00000401705.1:p.Arg86Cys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1753C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1755C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.256C>T
  hgvsp: ENSP00000397155.1:p.Arg86Cys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.256C>T
  hgvsp: ENSP00000406686.1:p.Arg86Cys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.256C>T
  hgvsp: ENSP00000388738.2:p.Arg86Cys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+113C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.256C>T
  hgvsp: ENSP00000379891.2:p.Arg86Cys
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg86Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-224640655-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640655
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640655
    reference: chr 2
allele count: 1
allele frequency: 8.413117733169558e-6
allele num: 118862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.254A>G
  hgvsp: ENSP00000406686.1:p.His85Arg
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.254A>G
  hgvsp: ENSP00000388738.2:p.His85Arg
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1751A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1753A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.254A>G
  hgvsp: ENSP00000379891.2:p.His85Arg
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.254A>G
  hgvsp: ENSP00000401705.1:p.His85Arg
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.254A>G
  hgvsp: ENSP00000387199.1:p.His85Arg
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.254A>G
  hgvsp: ENSP00000397155.1:p.His85Arg
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+111A>G
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His85Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum

2-224640656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640656
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640656
    reference: chr 2
allele count: 2
allele frequency: 1.68239707935867e-5
allele num: 118878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.253C>T
  hgvsp: ENSP00000387199.1:p.His85Tyr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.253C>T
  hgvsp: ENSP00000388738.2:p.His85Tyr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.253C>T
  hgvsp: ENSP00000379891.2:p.His85Tyr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.253C>T
  hgvsp: ENSP00000397155.1:p.His85Tyr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.253C>T
  hgvsp: ENSP00000401705.1:p.His85Tyr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1752C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.253C>T
  hgvsp: ENSP00000406686.1:p.His85Tyr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1750C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+110C>T
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His85Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-224640661-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640661
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640661
    reference: chr 2
allele count: 202
allele frequency: 1.697764330139519e-3
allele num: 118980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.248T>C
  hgvsp: ENSP00000397155.1:p.Ile83Thr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1747T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1745T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.248T>C
  hgvsp: ENSP00000406686.1:p.Ile83Thr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.248T>C
  hgvsp: ENSP00000401705.1:p.Ile83Thr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.248T>C
  hgvsp: ENSP00000387199.1:p.Ile83Thr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.248T>C
  hgvsp: ENSP00000388738.2:p.Ile83Thr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+105T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.248T>C
  hgvsp: ENSP00000379891.2:p.Ile83Thr
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11585
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 41621
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile83Thr
num of homozygotes: 3
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-224640665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640665
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640665
    reference: chr 2
allele count: 1
allele frequency: 8.407035006893769e-6
allele num: 118948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+101G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1741G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.244G>A
  hgvsp: ENSP00000388738.2:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.244G>A
  hgvsp: ENSP00000401705.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.244G>A
  hgvsp: ENSP00000387199.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1743G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.244G>A
  hgvsp: ENSP00000406686.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.244G>A
  hgvsp: ENSP00000397155.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.244G>A
  hgvsp: ENSP00000379891.2:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu82Lys
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

2-224640669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640669
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640669
    reference: chr 2
allele count: 29
allele frequency: 2.440050483803113e-4
allele num: 118850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.240G>A
  hgvsp: ENST00000423110.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1739G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.240G>A
  hgvsp: ENST00000409375.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.240G>A
  hgvsp: ENST00000446015.2:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.240G>A
  hgvsp: ENST00000396654.2:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1737G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.240G>A
  hgvsp: ENST00000443700.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+97G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.240G>A
  hgvsp: ENST00000415298.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41147
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50030
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr80Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-224640670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640670
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640670
    reference: chr 2
allele count: 10
allele frequency: 8.415808254224736e-5
allele num: 118824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.239C>T
  hgvsp: ENSP00000401705.1:p.Thr80Met
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+96C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.239C>T
  hgvsp: ENSP00000379891.2:p.Thr80Met
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1738C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.239C>T
  hgvsp: ENSP00000387199.1:p.Thr80Met
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.239C>T
  hgvsp: ENSP00000406686.1:p.Thr80Met
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1736C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.239C>T
  hgvsp: ENSP00000388738.2:p.Thr80Met
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.239C>T
  hgvsp: ENSP00000397155.1:p.Thr80Met
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr80Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/2-224640674-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640674
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640674
    reference: chr 2
allele count: 111
allele frequency: 9.350360536424287e-4
allele num: 118712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.235T>G
  hgvsp: ENSP00000387199.1:p.Leu79Val
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.235T>G
  hgvsp: ENSP00000388738.2:p.Leu79Val
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.235T>G
  hgvsp: ENSP00000397155.1:p.Leu79Val
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.235T>G
  hgvsp: ENSP00000379891.2:p.Leu79Val
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+92T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1734T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.235T>G
  hgvsp: ENSP00000406686.1:p.Leu79Val
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.235T>G
  hgvsp: ENSP00000401705.1:p.Leu79Val
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1732T>G
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40864
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu79Val
num of homozygotes: 1
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

2-224640682-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640682
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640682
    reference: chr 2
allele count: 1
allele frequency: 8.470125866070369e-6
allele num: 118062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.227A>G
  hgvsp: ENSP00000397155.1:p.Asn76Ser
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+84A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1724A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.227A>G
  hgvsp: ENSP00000388738.2:p.Asn76Ser
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1726A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.227A>G
  hgvsp: ENSP00000379891.2:p.Asn76Ser
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.227A>G
  hgvsp: ENSP00000387199.1:p.Asn76Ser
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.227A>G
  hgvsp: ENSP00000401705.1:p.Asn76Ser
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.227A>G
  hgvsp: ENSP00000406686.1:p.Asn76Ser
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12027
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn76Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD

2-224640689-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640689
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640689
    reference: chr 2
allele count: 4
allele frequency: 3.403733896084004e-5
allele num: 117518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.220C>A
  hgvsp: ENSP00000397155.1:p.Gln74Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.220C>A
  hgvsp: ENSP00000388738.2:p.Gln74Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+77C>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.220C>A
  hgvsp: ENSP00000401705.1:p.Gln74Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.220C>A
  hgvsp: ENSP00000406686.1:p.Gln74Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.220C>A
  hgvsp: ENSP00000379891.2:p.Gln74Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1717C>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.220C>A
  hgvsp: ENSP00000387199.1:p.Gln74Lys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1719C>A
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln74Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-224640693-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640693
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640693
    reference: chr 2
allele count: 2
allele frequency: 1.709869365980439e-5
allele num: 116968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.216A>C
  hgvsp: ENSP00000388738.2:p.Glu72Asp
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.216A>C
  hgvsp: ENSP00000379891.2:p.Glu72Asp
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.216A>C
  hgvsp: ENSP00000401705.1:p.Glu72Asp
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.216A>C
  hgvsp: ENSP00000397155.1:p.Glu72Asp
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1713A>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.216A>C
  hgvsp: ENSP00000387199.1:p.Glu72Asp
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+73A>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1715A>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.216A>C
  hgvsp: ENSP00000406686.1:p.Glu72Asp
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu72Asp
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-224640697-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640697
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640697
    reference: chr 2
allele count: 7
allele frequency: 6.040627534906198e-5
allele num: 115882
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.212T>C
  hgvsp: ENSP00000379891.2:p.Ile71Thr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.212T>C
  hgvsp: ENSP00000397155.1:p.Ile71Thr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.212T>C
  hgvsp: ENSP00000406686.1:p.Ile71Thr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+69T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.212T>C
  hgvsp: ENSP00000387199.1:p.Ile71Thr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.212T>C
  hgvsp: ENSP00000388738.2:p.Ile71Thr
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1709T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1711T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.212T>C
  hgvsp: ENSP00000401705.1:p.Ile71Thr
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile71Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

2-224640717-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640717
    reference: chr 2
allele count: 5
allele frequency: 4.667923894168829e-5
allele num: 107114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.192T>C
  hgvsp: ENST00000415298.1:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.192T>C
  hgvsp: ENST00000423110.1:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.192T>C
  hgvsp: ENST00000443700.1:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.192T>C
  hgvsp: ENST00000409375.1:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.192T>C
  hgvsp: ENST00000396654.2:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.192T>C
  hgvsp: ENST00000446015.2:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+49T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1689T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1691T>C
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser64Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-224640719-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640719
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640719
    reference: chr 2
allele count: 1
allele frequency: 9.53980004579104e-6
allele num: 104824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.190A>G
  hgvsp: ENSP00000388738.2:p.Ser64Gly
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1689A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.190A>G
  hgvsp: ENSP00000397155.1:p.Ser64Gly
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.190A>G
  hgvsp: ENSP00000401705.1:p.Ser64Gly
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.190A>G
  hgvsp: ENSP00000379891.2:p.Ser64Gly
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.190A>G
  hgvsp: ENSP00000406686.1:p.Ser64Gly
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+47A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1687A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.190A>G
  hgvsp: ENSP00000387199.1:p.Ser64Gly
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10398
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser64Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

2-224640723-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640723
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640723
    reference: chr 2
allele count: 1
allele frequency: 9.952625502607588e-6
allele num: 100476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.186T>C
  hgvsp: ENST00000443700.1:c.186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.186T>C
  hgvsp: ENST00000423110.1:c.186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.186T>C
  hgvsp: ENST00000446015.2:c.186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.186T>C
  hgvsp: ENST00000415298.1:c.186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+43T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.186T>C
  hgvsp: ENST00000396654.2:c.186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.186T>C
  hgvsp: ENST00000409375.1:c.186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1685T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1683T>C
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9475
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr62Tyr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

2-224640732-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640732
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640732
    reference: chr 2
allele count: 1
allele frequency: 1.075476974037986e-5
allele num: 92982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-6T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1676T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-6T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-6T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+34T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1674T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-6T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-6T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-6T>C
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
hgvs: c.183-6T>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-224640744-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640744
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640744
    reference: chr 2
allele count: 1
allele frequency: 1.200509015822709e-5
allele num: 83298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+22G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-18G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1662G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-18G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-18G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-18G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-18G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1664G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-18G>C
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-224640762-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640762
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640762
    reference: chr 2
allele count: 3
allele frequency: 4.61566865653271e-5
allele num: 64996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-36T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-36T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-36T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1644T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1646T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.87+4T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-36T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-36T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-36T>G
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19210
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18032
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
hgvs: c.87+4T>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-224640772-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640772
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640771
    reference: chr 2
allele count: 2
allele frequency: 3.923107100823853e-5
allele num: 50980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1633delT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-47delT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1635delT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-47delT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.80delT
  hgvsp: ENSP00000399738.1:p.Leu27CysfsTer24
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-47delT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-47delT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-47delT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-47delT
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13452
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19248
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu27CysfsTer24
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: CA
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

2-224640783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640783
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640783
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 37670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1625G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-57G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.70G>A
  hgvsp: ENSP00000399738.1:p.Val24Ile
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-57G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1623G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-57G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-57G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-57G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-57G>A
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18290
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27164
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val24Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-224640791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640791
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640791
    reference: chr 2
allele count: 1
allele frequency: 3.242752448278098e-5
allele num: 30838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-65G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-65G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-65G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1615G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-65G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.62G>A
  hgvsp: ENSP00000399738.1:p.Gly21Glu
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-65G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1617G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-65G>A
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21920
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly21Glu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

2-224640795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640795
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640795
    reference: chr 2
allele count: 1
allele frequency: 3.968568934042384e-5
allele num: 25198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1613G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-69G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-69G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-69G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.58G>A
  hgvsp: ENSP00000399738.1:p.Val20Met
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-69G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-69G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1611G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-69G>A
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14319
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val20Met
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

2-224640796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640796
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640796
    reference: chr 2
allele count: 2
allele frequency: 8.139345596614032e-5
allele num: 24572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-70C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-70C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1610C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.57C>T
  hgvsp: ENST00000444408.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-70C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-70C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-70C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1612C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-70C>T
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe19Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-224640803-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640803
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640805
    reference: chr 2
allele count: 5546
allele frequency: 2.243346007604563e-1
allele num: 24722
alternate allele: CAA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.49_50insTT
  hgvsp: ENSP00000399738.1:p.Cys17PhefsTer35
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1602_184+1603insTT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-78_183-77insTT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-78_183-77insTT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-78_183-77insTT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-78_183-77insTT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1604_182+1605insTT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-78_183-77insTT
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-78_183-77insTT
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 1.25e1
  variant carriers: 808
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 21953
  bin: 2.5e0
  variant carriers: 1477
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 9.75e1
  variant carriers: 1738
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.75e1
  variant carriers: 332
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 12986
  bin: 7.5e0
  variant carriers: 4531
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 2.25e1
  variant carriers: 300
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 2.75e1
  variant carriers: 269
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 3.25e1
  variant carriers: 495
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.25e1
  variant carriers: 201
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.75e1
  variant carriers: 203
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 467
hgvs: p.Cys17PhefsTer35
num of homozygotes: 623
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-224640808-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640808
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640808
    reference: chr 2
allele count: 235
allele frequency: 1.177000901532605e-2
allele num: 19966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-82T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1600T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-82T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.45T>G
  hgvsp: ENST00000444408.1:c.45T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-82T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-82T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-82T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1598T>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-82T>G
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27145
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 22063
  bin: 7.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 6.25e1
  variant carriers: 8
hgvs: p.Gly15Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

2-224640808-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640808
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640808
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 19966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1600T>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-82T>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1598T>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-82T>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.45T>A
  hgvsp: ENST00000444408.1:c.45T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-82T>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-82T>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-82T>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-82T>A
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27145
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly15Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-224640809-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640809
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640809
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 20788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-83G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1599G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-83G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-83G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.44G>T
  hgvsp: ENSP00000399738.1:p.Gly15Val
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-83G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-83G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1597G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-83G>T
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28774
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly15Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

2-224640811-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640811
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640811
    reference: chr 2
allele count: 16
allele frequency: 7.932573128408527e-4
allele num: 20170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-85A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-85A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-85A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-85A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-85A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1597A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.42A>G
  hgvsp: ENST00000444408.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-85A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1595A>G
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7262
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly14Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-224640814-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640814
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640814
    reference: chr 2
allele count: 112
allele frequency: 6.128926343438765e-3
allele num: 18274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-88A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-88A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-88A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-88A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-88A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-88A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.39A>G
  hgvsp: ENST00000444408.1:c.39A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1594A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1592A>G
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27483
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 1.25e1
  variant carriers: 5
hgvs: p.Gly13Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

2-224640819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640819
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640819
    reference: chr 2
allele count: 2
allele frequency: 9.796238244514106e-5
allele num: 20416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-93G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-93G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.34G>A
  hgvsp: ENSP00000399738.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-93G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-93G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1589G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1587G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-93G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-93G>A
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31513
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29903
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly12Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

2-224640820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640820
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640820
    reference: chr 2
allele count: 4
allele frequency: 1.971025918990835e-4
allele num: 20294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1586C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-94C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-94C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-94C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-94C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-94C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.33C>T
  hgvsp: ENST00000444408.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-94C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1588C>T
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31702
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly11Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-224640822-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640822
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640822
    reference: chr 2
allele count: 1
allele frequency: 5.024620641141594e-5
allele num: 19902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.31G>T
  hgvsp: ENSP00000399738.1:p.Gly11Cys
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-96G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1586G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-96G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1584G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-96G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-96G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-96G>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-96G>T
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly11Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

2-224640822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640822
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640822
    reference: chr 2
allele count: 12
allele frequency: 6.029544769369913e-4
allele num: 19902
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-96G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-96G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-96G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-96G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.31G>A
  hgvsp: ENSP00000399738.1:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1586G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-96G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1584G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-96G>A
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31493
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Gly11Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

2-224640823-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640823
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640823
    reference: chr 2
allele count: 3
allele frequency: 1.455886634960691e-4
allele num: 20606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.30C>T
  hgvsp: ENST00000444408.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-97C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-97C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-97C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-97C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-97C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1583C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1585C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-97C>T
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32446
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu10Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

2-224640829-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640829
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640829
    reference: chr 2
allele count: 1
allele frequency: 4.907252919815487e-5
allele num: 20378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-103G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1577G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.24G>A
  hgvsp: ENST00000444408.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-103G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-103G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-103G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-103G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1579G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-103G>A
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu8Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-224640830-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640830
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640830
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 20314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.23A>T
  hgvsp: ENSP00000399738.1:p.Glu8Val
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1578A>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-104A>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-104A>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-104A>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-104A>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1576A>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-104A>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-104A>T
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu8Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-224640833-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640833
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 20210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.20A>G
  hgvsp: ENSP00000399738.1:p.Glu7Gly
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-107A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-107A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-107A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1575A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1573A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-107A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-107A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-107A>G
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29992
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu7Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-224640835-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640835
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 20156
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-109T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-109T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.18T>C
  hgvsp: ENST00000444408.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1573T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-109T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-109T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-109T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1571T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-109T>C
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 29328
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28019
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Asp6Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

2-224640838-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640838
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 20048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-112G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-112G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-112G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-112G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-112G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1568G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.15G>C
  hgvsp: ENSP00000399738.1:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-112G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1570G>C
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu5Phe
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-224640863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640863
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640863
    reference: chr 2
allele count: 2450
allele frequency: 1.278972645646273e-1
allele num: 19156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-137G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-137G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1545G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1543G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-137G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-137G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-137G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-137G>A
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.5e0
  variant carriers: 492
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 2.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 18229
  bin: 2.5e0
  variant carriers: 571
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 9.75e1
  variant carriers: 627
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 6.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 14823
  bin: 7.5e0
  variant carriers: 292
num of homozygotes: 216
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

2-224640868-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640868
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640868
    reference: chr 2
allele count: 1
allele frequency: 5.315190815350271e-5
allele num: 18814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-142T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-142T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-142T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-142T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.-16T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-142T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-142T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1538T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1540T>C
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16176
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

2-224640869-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640869
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640869
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 18776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-143A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-143A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-143A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-143A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1537A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-143A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.-17A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1539A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-143A>G
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15482
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

2-224640873-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640873
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640873
    reference: chr 2
allele count: 1
allele frequency: 5.353892279687333e-5
allele num: 18678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-147G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-147G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-147G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-147G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-147G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1535G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.-21G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-147G>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1533G>C
  variant of: http://identifiers.org/hgnc/18971
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
hgvs: c.-21G>C
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

2-224640896-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224640896
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224640896
    reference: chr 2
allele count: 2228
allele frequency: 1.243303571428571e-1
allele num: 17920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.183-170A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+1510A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.183-170A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.183-170A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.183-170A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.-23-21A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.183-170A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+1512A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.183-170A>G
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.5e0
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 2.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 12562
  bin: 2.5e0
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 6111
  bin: 7.5e0
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 41
num of homozygotes: 181
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

2-224642364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224642364
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224642364
    reference: chr 2
allele count: 1
allele frequency: 9.368032525808929e-6
allele num: 106746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.182+44G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.182+44G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.182+44G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+42G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+44G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.182+44G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.-24+44G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.182+44G>A
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.182+44G>A
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10212
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5741
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-224642368-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224642368
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224642368
    reference: chr 2
allele count: 2
allele frequency: 1.858045336306206e-5
allele num: 107640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.-24+40C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.182+40C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.182+40C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+40C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.182+40C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+38C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.182+40C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.182+40C>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.182+40C>G
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19078
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5635
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-224642373-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224642373
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224642373
    reference: chr 2
allele count: 1
allele frequency: 9.263204698297423e-6
allele num: 107954
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.182+35T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.182+35T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+33T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.182+35T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+35T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.182+35T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.182+35T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.182+35T>C
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.-24+35T>C
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11516
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-224642375-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224642375
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224642375
    reference: chr 2
allele count: 5
allele frequency: 4.624662399644826e-5
allele num: 108116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.182+33A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.182+33A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+33A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.-24+33A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.182+33A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.182+33A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.182+33A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+31A>G
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.182+33A>G
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24635
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4687
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-224642378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 224642378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 224642378
    reference: chr 2
allele count: 1
allele frequency: 9.158851113716295e-6
allele num: 109184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000406686
  ensembl transcript: ENST00000423110
  gene symbol: AP1S3
  hgvsc: ENST00000423110.1:c.182+30C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379891
  ensembl transcript: ENST00000396654
  gene symbol: AP1S3
  hgvsc: ENST00000396654.2:c.182+30C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000399738
  ensembl transcript: ENST00000444408
  gene symbol: AP1S3
  hgvsc: ENST00000444408.1:c.-24+30C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000401705
  ensembl transcript: ENST00000415298
  gene symbol: AP1S3
  hgvsc: ENST00000415298.1:c.182+30C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000387199
  ensembl transcript: ENST00000409375
  gene symbol: AP1S3
  hgvsc: ENST00000409375.1:c.182+30C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000379890
  ensembl transcript: ENST00000396653
  gene symbol: AP1S3
  hgvsc: ENST00000396653.2:c.184+28C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000397155
  ensembl transcript: ENST00000443700
  gene symbol: AP1S3
  hgvsc: ENST00000443700.1:c.182+30C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000333888
  ensembl transcript: ENST00000334271
  gene symbol: AP1S3
  hgvsc: ENST00000334271.3:c.182+30C>T
  variant of: http://identifiers.org/hgnc/18971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152056
  ensembl protein: ENSP00000388738
  ensembl transcript: ENST00000446015
  gene symbol: AP1S3
  hgvsc: ENST00000446015.2:c.182+30C>T
  variant of: http://identifiers.org/hgnc/18971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26945
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4102
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1731
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.725782414307004e-4
allele num: 5368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

QD
type: SiteQuality
SIO_000300: 1.058e1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

FS
type: SiteQuality
SIO_000300: 1.348e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

DP
type: SiteQuality
SIO_000300: 2.77588e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.17e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.305142260506395e-4
allele num: 7662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

VQSLOD
type: SiteQuality
SIO_000300: -1.465e0

FS
type: SiteQuality
SIO_000300: 1.961e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

QD
type: SiteQuality
SIO_000300: 1.662e1

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.599e0

DP
type: SiteQuality
SIO_000300: 2.74807e5

GenotypeQuality
all individuals: 244
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.883239171374765e-4
allele num: 5310
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.068e0

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

DP
type: SiteQuality
SIO_000300: 2.7329e5

FS
type: SiteQuality
SIO_000300: 9.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 1.262e1

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 9.75e1
variant carriers: 6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.818251240931653e-4
allele num: 5238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.304801670146138e-4
allele num: 7664
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.908e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 1.097e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

DP
type: SiteQuality
SIO_000300: 3.37872e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.216e1

GenotypeQuality
all individuals: 1818
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 227
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2231
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 5.434782608695652e-3
allele num: 184
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.307692307692308e-2
allele num: 910
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.912777352716144e-3
allele num: 5228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 6.944444444444444e-3
allele num: 288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

QD
type: SiteQuality
SIO_000300: 1.28e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.484e0

VQSLOD
type: SiteQuality
SIO_000300: 5.75e0

DP
type: SiteQuality
SIO_000300: 3.37079e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2211
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 729
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.555555555555556e-3
allele num: 180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.844675124951942e-4
allele num: 5202
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.63e-1

DP
type: SiteQuality
SIO_000300: 3.34605e5

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

FS
type: SiteQuality
SIO_000300: 6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

GenotypeQuality
all individuals: 1732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 639
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.305142260506395e-4
allele num: 7662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.93e-1

QD
type: SiteQuality
SIO_000300: 1.519e1

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

FS
type: SiteQuality
SIO_000300: 1.475e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.11e-2

DP
type: SiteQuality
SIO_000300: 3.32765e5

VQSLOD
type: SiteQuality
SIO_000300: -2.428e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 443
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.305142260506395e-4
allele num: 7662
num of homozygotes: 0

African
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: 770
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.349e0

DP
type: SiteQuality
SIO_000300: 3.31362e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.893e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

FS
type: SiteQuality
SIO_000300: 2.442e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

MQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.54e0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 627
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.305142260506395e-4
allele num: 7662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.66e-1

DP
type: SiteQuality
SIO_000300: 3.28693e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.14e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5902
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.071851821157751e-5
allele num: 48266
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.72768e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -6.929999999999999e-1

MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.709e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

QD
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 6.021e0

VQSLOD
type: SiteQuality
SIO_000300: -2.454e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5442
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.262945188178833e-4
allele num: 7918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5992
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ClippingRankSum
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SIO_000300: -1.545e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.371e0

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 3.21e0

DP
type: SiteQuality
SIO_000300: 9.87055e5

VQSLOD
type: SiteQuality
SIO_000300: -3.352e0

MQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.910511635015857e-5
allele num: 52342
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.486767766874814e-4
allele num: 6726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13078
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.014e0

DP
type: SiteQuality
SIO_000300: 1.160786e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

FS
type: SiteQuality
SIO_000300: 1.448e0

QD
type: SiteQuality
SIO_000300: 1.296e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 785
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53158
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.911208151382824e-4
allele num: 6870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5720
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.562008469449486e-5
allele num: 13224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.907e1

FS
type: SiteQuality
SIO_000300: 5.921e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.183333e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.451589490492089e-4
allele num: 13778
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56058
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.737015806843842e-5
allele num: 57570
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.188e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.29e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8206
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
type: Population
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allele frequency: 1.081782778018174e-4
allele num: 9244
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Other
type: Population
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ClippingRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
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FS
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.507874528179097e-5
allele num: 15366
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9424
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62970
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.843e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e0

VQSLOD
type: SiteQuality
SIO_000300: -5.259e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

DP
type: SiteQuality
SIO_000300: 1.408799e6

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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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.109066036562616e-4
allele num: 16082
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65278
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: 9660
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

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: 4

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

Other
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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: 16082
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.105590062111801e-4
allele num: 9660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531909678605349e-5
allele num: 65278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.296e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.112e0

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 1.45647e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.034340091021928e-4
allele num: 9668
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65324
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.002801120448179e-4
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.211e1

DP
type: SiteQuality
SIO_000300: 1.457522e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

FS
type: SiteQuality
SIO_000300: 1.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.55e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
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: 1
allele frequency: 6.194251734390486e-5
allele num: 16144
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.032204789430223e-4
allele num: 9688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65452
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

DP
type: SiteQuality
SIO_000300: 1.46027e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

QD
type: SiteQuality
SIO_000300: 1.026e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527090587013621e-5
allele num: 65484
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
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: 11388
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.186587478346944e-5
allele num: 16164
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.58e-1

DP
type: SiteQuality
SIO_000300: 1.461407e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.084e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.031353135313531e-4
allele num: 9696
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.204e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.462378e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
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: 2
allele frequency: 3.050454517723141e-5
allele num: 65564
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

QD
type: SiteQuality
SIO_000300: 1.19e1

FS
type: SiteQuality
SIO_000300: 1.301e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.277e0

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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bin: 9.75e1
variant carriers: 197

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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bin: 9.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
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: 11404
num of homozygotes: 0

South Asian
type: Population
allele count: 201
allele frequency: 1.239669421487603e-2
allele num: 16214
num of homozygotes: 3

African
type: Population
allele count: 1
allele frequency: 1.030502885408079e-4
allele num: 9704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65634
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.34e-1

DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.02e0

InbreedingCoeff
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SIO_000300: 2.04e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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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: 2.5e0
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GenotypeQuality
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GenotypeQuality
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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: 982
bin: 7.25e1
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GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 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: 11406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523786304208698e-5
allele num: 65626
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.296e0

VQSLOD
type: SiteQuality
SIO_000300: -9.326e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.243e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.651e0

DP
type: SiteQuality
SIO_000300: 1.467257e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.966195808036123e-4
allele num: 65554
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.031140441328109e-4
allele num: 9698
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.181998021760633e-5
allele num: 16176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 1.468053e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQ
type: SiteQuality
SIO_000300: 5.899e1

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
all individuals: 242
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.474328838302611e-4
allele num: 16166
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.030927835051546e-4
allele num: 9700
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.103143118706134e-5
allele num: 65540
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.466754e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

FS
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

QD
type: SiteQuality
SIO_000300: 1.019e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 109

GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 106
allele frequency: 1.093459872085826e-2
allele num: 9694
num of homozygotes: 1

Latino
type: Population
allele count: 4
allele frequency: 3.508156463778285e-4
allele num: 11402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527277170260859e-5
allele num: 65476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 1.123e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.173e0

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

QD
type: SiteQuality
SIO_000300: 1.302e1

DP
type: SiteQuality
SIO_000300: 1.467777e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 49031
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.236746912810279e-5
allele num: 16034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65092
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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.98e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

DP
type: SiteQuality
SIO_000300: 1.455895e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e-1

GenotypeQuality
all individuals: 6
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15946
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.178942165101334e-5
allele num: 64736
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.439e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 1.247e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 1.450901e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

QD
type: SiteQuality
SIO_000300: 1.117e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
type: Population
allele count: 1
allele frequency: 8.855827134254339e-5
allele num: 11292
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15834
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.044495508669313e-4
allele num: 9574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 1.443486e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.266e0

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.602e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 402
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9522
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South Asian
type: Population
allele count: 0
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allele num: 15674
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.137758743754461e-4
allele num: 8406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 1
allele frequency: 8.93016610108948e-5
allele num: 11198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63732
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.298e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.430106e6

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

GenotypeQuality
all individuals: 264
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.518177791406862e-5
allele num: 58698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

InbreedingCoeff
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SIO_000300: -7.0e-4

VQSLOD
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QD
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ClippingRankSum
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SIO_000300: 1.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.18e0

BaseQRankSum
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SIO_000300: 3.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

DP
type: SiteQuality
SIO_000300: 1.310485e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.339405304045004e-4
allele num: 7466
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8836
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57434
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.62e0

FS
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 3.99e0

MQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

MQ
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SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 9204
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: 0
allele frequency: 0.0e0
allele num: 55022
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5948
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.428571428571429e-4
allele num: 7000
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VQSLOD
type: SiteQuality
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DP
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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FS
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MQRankSum
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ReadPosRankSum
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SIO_000300: -1.32e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.224289911851126e-4
allele num: 8168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50778
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.431e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.10897e6

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
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SIO_000300: 2.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.18e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.213760736739573e-5
allele num: 45172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6944
num of homozygotes: 0

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

Other
type: Population
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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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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5234
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 3.509e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.418e0

DP
type: SiteQuality
SIO_000300: 9.91589e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.074e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4332
num of homozygotes: 0

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

African
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 556
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European (Non-Finnish)
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allele count: 3
allele frequency: 8.61573808156232e-5
allele num: 34820
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ReadPosRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.57e-2

QD
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ClippingRankSum
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SIO_000300: -1.01e-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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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2392
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 3688
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 7.494566439331484e-5
allele num: 26686
num of homozygotes: 0

African
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -3.25e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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ReadPosRankSum
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FS
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DP
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 8838
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
allele num: 3640
num of homozygotes: 0

Latino
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.324468085106383e-4
allele num: 3008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.729e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.38e-2

QD
type: SiteQuality
SIO_000300: 1.191e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

MQ
type: SiteQuality
SIO_000300: 5.632e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.89893e5

GenotypeQuality
all individuals: 1112
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28072
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 874
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1294
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.205214465937763e-4
allele num: 2378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.428e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

DP
type: SiteQuality
SIO_000300: 5.6539e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.51e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

GenotypeQuality
all individuals: 27367
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 541
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.87125748502994e-4
allele num: 10688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.027e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.171e0

QD
type: SiteQuality
SIO_000300: 4.21e0

DP
type: SiteQuality
SIO_000300: 5.59337e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

GenotypeQuality
all individuals: 932
bin: 6.75e1
variant carriers: 88

GenotypeQuality
all individuals: 590
bin: 3.75e1
variant carriers: 476

GenotypeQuality
all individuals: 19944
bin: 7.5e0
variant carriers: 518

GenotypeQuality
all individuals: 3051
bin: 6.25e1
variant carriers: 54

GenotypeQuality
all individuals: 6224
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 2885
bin: 2.25e1
variant carriers: 324

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 35

GenotypeQuality
all individuals: 1988
bin: 1.25e1
variant carriers: 710

GenotypeQuality
all individuals: 685
bin: 8.25e1
variant carriers: 400

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 15

GenotypeQuality
all individuals: 946
bin: 7.75e1
variant carriers: 493

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 8

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 21

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 16

GenotypeQuality
all individuals: 6945
bin: 9.75e1
variant carriers: 6405

European (Finnish)
type: Population
allele count: 374
allele frequency: 2.06858407079646e-1
allele num: 1808
num of homozygotes: 47

East Asian
type: Population
allele count: 145
allele frequency: 1.970108695652174e-1
allele num: 736
num of homozygotes: 12

African
type: Population
allele count: 579
allele frequency: 2.478595890410959e-1
allele num: 2336
num of homozygotes: 63

Other
type: Population
allele count: 52
allele frequency: 1.911764705882353e-1
allele num: 272
num of homozygotes: 8

South Asian
type: Population
allele count: 1418
allele frequency: 1.743728480078701e-1
allele num: 8132
num of homozygotes: 151

European (Non-Finnish)
type: Population
allele count: 2859
allele frequency: 2.647712539359141e-1
allele num: 10798
num of homozygotes: 331

Latino
type: Population
allele count: 119
allele frequency: 1.859375e-1
allele num: 640
num of homozygotes: 11

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.099e0

DP
type: SiteQuality
SIO_000300: 6.93928e5

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 2.096e1

MQ
type: SiteQuality
SIO_000300: 5.886e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.47e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.63e-1

GenotypeQuality
all individuals: 731
bin: 1.75e1
variant carriers: 7

GenotypeQuality
all individuals: 11318
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 968
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1818
bin: 2.25e1
variant carriers: 7

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 364
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 267
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 585
bin: 7.75e1
variant carriers: 8

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1670
bin: 9.75e1
variant carriers: 171

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 345
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 3

Other
type: Population
allele count: 4
allele frequency: 1.785714285714286e-2
allele num: 224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 5.240068242749208e-3
allele num: 8206
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.694915254237288e-3
allele num: 590
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.554931016862545e-4
allele num: 7828
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.88235294117647e-4
allele num: 1700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 183
allele frequency: 1.837349397590362e-1
allele num: 996
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.369668246445498e-3
allele num: 422
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.622e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
SIO_000300: 5.06517e5

FS
type: SiteQuality
SIO_000300: 2.3713e2

QD
type: SiteQuality
SIO_000300: 2.24e0

VQSLOD
type: SiteQuality
SIO_000300: -2.574e2

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22063
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 428
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11318
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1670
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.81e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.622e0

VQSLOD
type: SiteQuality
SIO_000300: -2.574e2

DP
type: SiteQuality
SIO_000300: 5.06517e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 2.3713e2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

QD
type: SiteQuality
SIO_000300: 2.24e0

MQ
type: SiteQuality
SIO_000300: 5.902e1

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26990
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4839
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3159
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.791e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.87694e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.480000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.344e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 901
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24656
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1738
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3086
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1022
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 9.167842031029619e-3
allele num: 1418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.789792824658919e-4
allele num: 7916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.59724e2

QD
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.25e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.156e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.403e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.487e0

DP
type: SiteQuality
SIO_000300: 4.80694e5

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 446
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 970
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 226
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 596
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 181
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13575
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1087
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18505
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 2995
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1617
bin: 9.75e1
variant carriers: 66

GenotypeQuality
all individuals: 310
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 436
bin: 8.25e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.538715410002539e-4
allele num: 7878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 88
allele frequency: 1.05515587529976e-1
allele num: 834
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 1.456310679611651e-2
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.691980731085293e-3
allele num: 7058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1298
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.824e0

FS
type: SiteQuality
SIO_000300: 2.32795e2

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.048e-1

DP
type: SiteQuality
SIO_000300: 4.73498e5

QD
type: SiteQuality
SIO_000300: 1.93e0

VQSLOD
type: SiteQuality
SIO_000300: -2.424e2

GenotypeQuality
all individuals: 2911
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 487
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.260398285858331e-4
allele num: 7934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.090133982947625e-4
allele num: 1642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.75e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 4.123e0

DP
type: SiteQuality
SIO_000300: 4.5111e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

QD
type: SiteQuality
SIO_000300: 7.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.599e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 251
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3132
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 707
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variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.25e1
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GenotypeQuality
all individuals: 2035
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 30000
bin: 7.5e0
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GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3459
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.108556832694764e-4
allele num: 7830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.954e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-2

QD
type: SiteQuality
SIO_000300: 8.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 4.51682e5

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.877e1

GenotypeQuality
all individuals: 3464
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
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variant carriers: 0

GenotypeQuality
all individuals: 3955
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29276
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2022
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variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 6.793478260869565e-4
allele num: 1472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.703000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.270000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 4.49165e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 8.166e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeQuality
all individuals: 161
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2393
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2022
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 632
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 256
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variant carriers: 0

GenotypeQuality
all individuals: 154
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GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 3464
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29276
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3955
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.451570335180786e-3
allele num: 7578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1472
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.259445843828715e-4
allele num: 7940
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 4.49165e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.703000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.270000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 8.166e0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
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variant carriers: 1

GenotypeQuality
all individuals: 139
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variant carriers: 1

GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 454
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variant carriers: 0

GenotypeQuality
all individuals: 38
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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: 31565
bin: 7.5e0
variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.48941996514812e-4
allele num: 8034
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.26008064516129e-4
allele num: 7936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -1.182e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.317e0

DP
type: SiteQuality
SIO_000300: 4.52753e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.24e-1

QD
type: SiteQuality
SIO_000300: 1.505e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.81e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.62e-2

GenotypeQuality
all individuals: 3691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 390
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variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
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GenotypeQuality
all individuals: 1577
bin: 2.5e0
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GenotypeQuality
all individuals: 472
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GenotypeQuality
all individuals: 1100
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GenotypeQuality
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GenotypeQuality
all individuals: 2028
bin: 9.75e1
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GenotypeQuality
all individuals: 257
bin: 8.75e1
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GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.260716086737267e-4
allele num: 7932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.599e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 1.132e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.264e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

DP
type: SiteQuality
SIO_000300: 4.40687e5

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 7.75e1
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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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
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GenotypeQuality
all individuals: 93
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GenotypeQuality
all individuals: 1100
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
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GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.38299e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.64e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.113e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 6.93e0

GenotypeQuality
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
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GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 9.25e1
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GenotypeQuality
all individuals: 28762
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 636
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GenotypeQuality
all individuals: 3649
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.94e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.65e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.31994e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 1824
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2668
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.27598e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.62e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.077e1

VQSLOD
type: SiteQuality
SIO_000300: -2.009e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 1768
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 9.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27097
bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.657e1

MQ
type: SiteQuality
SIO_000300: 5.662e1

DP
type: SiteQuality
SIO_000300: 4.22478e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 9

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 14

GenotypeQuality
all individuals: 3641
bin: 9.75e1
variant carriers: 2176

GenotypeQuality
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bin: 7.75e1
variant carriers: 19

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 11

GenotypeQuality
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bin: 5.75e1
variant carriers: 39

GenotypeQuality
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bin: 8.25e1
variant carriers: 31

GenotypeQuality
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bin: 8.75e1
variant carriers: 48

GenotypeQuality
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bin: 2.75e1
variant carriers: 124

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 29

GenotypeQuality
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bin: 1.25e1
variant carriers: 119

GenotypeQuality
all individuals: 1100
bin: 2.25e1
variant carriers: 78

GenotypeQuality
all individuals: 841
bin: 6.75e1
variant carriers: 36

GenotypeQuality
all individuals: 362
bin: 9.25e1
variant carriers: 41

South Asian
type: Population
allele count: 1079
allele frequency: 1.372424319511575e-1
allele num: 7862
num of homozygotes: 72

European (Finnish)
type: Population
allele count: 116
allele frequency: 7.099143206854346e-2
allele num: 1634
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 446
allele frequency: 6.3768944809837e-2
allele num: 6994
num of homozygotes: 9

African
type: Population
allele count: 542
allele frequency: 3.806179775280899e-1
allele num: 1424
num of homozygotes: 97

East Asian
type: Population
allele count: 183
allele frequency: 3.060200668896321e-1
allele num: 598
num of homozygotes: 24

Latino
type: Population
allele count: 65
allele frequency: 1.570048309178744e-1
allele num: 414
num of homozygotes: 5

Other
type: Population
allele count: 19
allele frequency: 8.260869565217391e-2
allele num: 230
num of homozygotes: 2

FS
type: SiteQuality
SIO_000300: 6.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.74e-2

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.526e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

DP
type: SiteQuality
SIO_000300: 4.51513e5

GenotypeQuality
all individuals: 175
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
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variant carriers: 0

GenotypeQuality
all individuals: 1190
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GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2506
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GenotypeQuality
all individuals: 2731
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GenotypeQuality
all individuals: 2611
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 452
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GenotypeQuality
all individuals: 251
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variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.459427904261529e-4
allele num: 6852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

DP
type: SiteQuality
SIO_000300: 3.78919e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.724e0

VQSLOD
type: SiteQuality
SIO_000300: -1.085e0

QD
type: SiteQuality
SIO_000300: 1.191e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.88e-2

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
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variant carriers: 0

GenotypeQuality
all individuals: 453
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GenotypeQuality
all individuals: 251
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GenotypeQuality
all individuals: 192
bin: 3.25e1
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GenotypeQuality
all individuals: 2687
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GenotypeQuality
all individuals: 2610
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GenotypeQuality
all individuals: 123
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GenotypeQuality
all individuals: 1151
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GenotypeQuality
all individuals: 418
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variant carriers: 0

GenotypeQuality
all individuals: 564
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
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GenotypeQuality
all individuals: 366
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6830
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 3.76615e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.859999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.439e1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeQuality
all individuals: 188
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13901
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 416
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3115
bin: 2.5e0
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GenotypeQuality
all individuals: 251
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.27420998980632e-4
allele num: 7848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1248
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.83e-2

DP
type: SiteQuality
SIO_000300: 3.70522e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.585e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.989e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.778e1

FS
type: SiteQuality
SIO_000300: 1.406e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

GenotypeQuality
all individuals: 6576
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 19

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 19

GenotypeQuality
all individuals: 342
bin: 9.25e1
variant carriers: 23

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 10

GenotypeQuality
all individuals: 250
bin: 1.75e1
variant carriers: 49

GenotypeQuality
all individuals: 322
bin: 7.25e1
variant carriers: 10

GenotypeQuality
all individuals: 399
bin: 8.25e1
variant carriers: 18

GenotypeQuality
all individuals: 691
bin: 6.75e1
variant carriers: 12

GenotypeQuality
all individuals: 478
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 238
bin: 3.25e1
variant carriers: 10

GenotypeQuality
all individuals: 3441
bin: 9.75e1
variant carriers: 1980

GenotypeQuality
all individuals: 204
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 298
bin: 1.25e1
variant carriers: 46

GenotypeQuality
all individuals: 1913
bin: 6.25e1
variant carriers: 14

East Asian
type: Population
allele count: 159
allele frequency: 3.045977011494253e-1
allele num: 522
num of homozygotes: 21

European (Non-Finnish)
type: Population
allele count: 402
allele frequency: 6.397199236155315e-2
allele num: 6284
num of homozygotes: 9

South Asian
type: Population
allele count: 1060
allele frequency: 1.363519423720093e-1
allele num: 7774
num of homozygotes: 69

African
type: Population
allele count: 421
allele frequency: 3.648180242634315e-1
allele num: 1154
num of homozygotes: 69

European (Finnish)
type: Population
allele count: 115
allele frequency: 7.116336633663366e-2
allele num: 1616
num of homozygotes: 7

Latino
type: Population
allele count: 55
allele frequency: 1.580459770114943e-1
allele num: 348
num of homozygotes: 5

Other
type: Population
allele count: 16
allele frequency: 7.207207207207207e-2
allele num: 222
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 3.50231e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

FS
type: SiteQuality
SIO_000300: 3.377e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

QD
type: SiteQuality
SIO_000300: 1.737e1

GenotypeQuality
all individuals: 6080
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4370
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 5.25e1
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GenotypeQuality
all individuals: 699
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variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 2.75e1
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GenotypeQuality
all individuals: 3235
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GenotypeQuality
all individuals: 1044
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GenotypeQuality
all individuals: 429
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GenotypeQuality
all individuals: 2813
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GenotypeQuality
all individuals: 895
bin: 8.25e1
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GenotypeQuality
all individuals: 400
bin: 8.75e1
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GenotypeQuality
all individuals: 1253
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5974
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9108
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8056
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.65953068472236e-5
allele num: 60258
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.556e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

DP
type: SiteQuality
SIO_000300: 1.211374e6

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.93e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 3129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 4.25e1
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GenotypeQuality
all individuals: 20499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 5.25e1
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GenotypeQuality
all individuals: 6174
bin: 2.25e1
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GenotypeQuality
all individuals: 918
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
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GenotypeQuality
all individuals: 5638
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3359
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 9.25e1
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GenotypeQuality
all individuals: 677
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.297717979158422e-5
allele num: 60648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

MQ
type: SiteQuality
SIO_000300: 5.843e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.334e0

DP
type: SiteQuality
SIO_000300: 1.233093e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.318e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

GenotypeQuality
all individuals: 2806
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25509
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5023
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4437
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1785
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.486082824168364e-5
allele num: 11784
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60870
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.451e0

QD
type: SiteQuality
SIO_000300: 6.72e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.272251e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.788e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

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

GenotypeQuality
all individuals: 414
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2689
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2819
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 746
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6122
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.477449983045101e-5
allele num: 11796
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.363953742090334e-4
allele num: 9166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10818
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

FS
type: SiteQuality
SIO_000300: 2.304e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

DP
type: SiteQuality
SIO_000300: 1.289049e6

QD
type: SiteQuality
SIO_000300: 1.239e1