5-115230861-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230861
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230860
    reference: chr 5
allele count: 6
allele frequency: 5.218298834579927e-5
allele num: 114980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+9delT
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+9delT
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+9delT
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+9delT
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+9delT
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 8.25e1
  variant carriers: 0
hgvs: c.345+9delT
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: AT
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

5-115230862-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230862
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230862
    reference: chr 5
allele count: 2
allele frequency: 1.741644460699793e-5
allele num: 114834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+7T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+7T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+7T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+7T>C
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.25e1
  variant carriers: 0
hgvs: c.345+7T>C
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-115230864-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230864
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230864
    reference: chr 5
allele count: 12
allele frequency: 1.047175244777214e-4
allele num: 114594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+9T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+9T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+9T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+9T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+9T>A
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3452
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4574
  bin: 9.75e1
  variant carriers: 12
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

5-115230865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230865
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230865
    reference: chr 5
allele count: 1
allele frequency: 8.737134569346637e-6
allele num: 114454
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+10G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+10G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+10G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+10G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+10G>A
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8558
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS

5-115230871-TCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230871
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230869
    reference: chr 5
allele count: 2
allele frequency: 1.76146271864156e-5
allele num: 113542
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+19_345+20delCA
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+19_345+20delCA
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+19_325+20delCA
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+19_72+20delCA
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+19_422+20delCA
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4564
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: TCA
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

5-115230874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230874
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230874
    reference: chr 5
allele count: 1
allele frequency: 8.849870791886438e-6
allele num: 112996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+19C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+19C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+19C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+19C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+19C>T
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28575
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4562
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7959
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
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: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

5-115230875-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230875
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230875
    reference: chr 5
allele count: 2
allele frequency: 1.772169844757922e-5
allele num: 112856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+20A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+20A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+20A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+20A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+20A>T
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4563
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/5-115230877-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230877
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230877
    reference: chr 5
allele count: 2
allele frequency: 1.778283600668635e-5
allele num: 112468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+22C>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+22C>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+22C>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+22C>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+22C>A
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4565
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-115230877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230877
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230877
    reference: chr 5
allele count: 3
allele frequency: 2.667425401002952e-5
allele num: 112468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+22C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+22C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+22C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+22C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+22C>T
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4565
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

5-115230880-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230880
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230880
    reference: chr 5
allele count: 3
allele frequency: 2.677232812165346e-5
allele num: 112056
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+25A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+25A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+25A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+25A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+25A>G
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4564
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

5-115230881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230881
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230881
    reference: chr 5
allele count: 35
allele frequency: 3.125669786382796e-4
allele num: 111976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+26G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+26G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+26G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+26G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+26G>A
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23886
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11680
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2274
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genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 599
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 1
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

5-115230887-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230887
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230887
    reference: chr 5
allele count: 1
allele frequency: 8.995232526760817e-6
allele num: 111170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+32T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+32T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+32T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+32T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+32T>A
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4553
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 325
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 597
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-115230893-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230893
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230893
    reference: chr 5
allele count: 1
allele frequency: 9.076222113307556e-6
allele num: 110178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+38A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+38A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+38A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+38A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+38A>C
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3756
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-115230895-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230895
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230895
    reference: chr 5
allele count: 1
allele frequency: 9.128418592762991e-6
allele num: 109548
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+40A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+40A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+40A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+40A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+40A>C
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14987
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4551
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6521
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

5-115230897-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230897
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230897
    reference: chr 5
allele count: 1
allele frequency: 9.202171712524156e-6
allele num: 108670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+42A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+42A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+42A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+42A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+42A>G
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 6587
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

5-115230899-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230899
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230899
    reference: chr 5
allele count: 19
allele frequency: 1.75584511597819e-4
allele num: 108210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+44T>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+44T>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+44T>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+44T>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+44T>G
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12524
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13385
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14993
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

5-115230905-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230905
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230905
    reference: chr 5
allele count: 1
allele frequency: 9.488746346832657e-6
allele num: 105388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+50A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+50A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+50A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+50A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+50A>G
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14572
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 824
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

5-115230906-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115230906
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115230906
    reference: chr 5
allele count: 9
allele frequency: 8.52482618826605e-5
allele num: 105574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.345+51T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+51T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.325+51T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.422+51T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.345+51T>C
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

5-115238532-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238532
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238532
    reference: chr 5
allele count: 1
allele frequency: 1.040712680043294e-5
allele num: 96088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7677T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.346-50T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.423-50T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.467-50T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.346-50T>A
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

5-115238538-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238538
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238538
    reference: chr 5
allele count: 1
allele frequency: 1.001161347162709e-5
allele num: 99884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7683T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.346-44T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.423-44T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.346-44T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.467-44T>C
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

5-115238543-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238543
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238543
    reference: chr 5
allele count: 1
allele frequency: 9.878494517435543e-6
allele num: 101230
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.346-39A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.467-39A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.346-39A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7688A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.423-39A>G
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

5-115238549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238549
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238549
    reference: chr 5
allele count: 1
allele frequency: 1.026441123337165e-5
allele num: 97424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.467-33C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.346-33C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.423-33C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7694C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.346-33C>T
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 9125
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 935
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

5-115238561-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238561
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238561
    reference: chr 5
allele count: 2
allele frequency: 1.903166869671133e-5
allele num: 105088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.346-21A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.467-21A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7706A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.423-21A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.346-21A>G
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

5-115238575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238575
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238575
    reference: chr 5
allele count: 1
allele frequency: 8.843922456487902e-6
allele num: 113072
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.346-7C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.423-7C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7720C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.346-7C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.467-7C>T
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.25e1
  variant carriers: 0
hgvs: c.346-7C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

5-115238589-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238589
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238589
    reference: chr 5
allele count: 15
allele frequency: 1.25367745386467e-4
allele num: 119648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.430A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.353A>G
  hgvsp: ENSP00000446179.1:p.Asn118Ser
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.474A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.353A>G
  hgvsp: ENSP00000325369.7:p.Asn118Ser
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7734A>G
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11065
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26129
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn118Ser
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

5-115238598-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238598
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238598
    reference: chr 5
allele count: 7
allele frequency: 5.783881149505065e-5
allele num: 121026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.483C>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.439C>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.362C>G
  hgvsp: ENSP00000446179.1:p.Ala121Gly
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7743C>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.362C>G
  hgvsp: ENSP00000325369.7:p.Ala121Gly
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9853
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala121Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

5-115238600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238600
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238600
    reference: chr 5
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7745G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.441G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.485G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.364G>A
  hgvsp: ENSP00000325369.7:p.Glu122Lys
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.364G>A
  hgvsp: ENSP00000446179.1:p.Glu122Lys
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11936
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu122Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

5-115238605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238605
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238605
    reference: chr 5
allele count: 204
allele frequency: 1.697934180080901e-3
allele num: 120146
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.369G>A
  hgvsp: ENSP00000325369.7:p.Met123Ile
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.369G>A
  hgvsp: ENSP00000446179.1:p.Met123Ile
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.446G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7750G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.490G>A
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17339
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 9485
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 9.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 5.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 7338
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 9.25e1
  variant carriers: 4
hgvs: p.Met123Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

5-115238606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238606
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238606
    reference: chr 5
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.491G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7751G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.370G>A
  hgvsp: ENSP00000325369.7:p.Val124Met
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.447G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.370G>A
  hgvsp: ENSP00000446179.1:p.Val124Met
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12847
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val124Met
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

5-115238616-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238616
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238616
    reference: chr 5
allele count: 6
allele frequency: 4.946903238572654e-5
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7761G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.457G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.380G>A
  hgvsp: ENSP00000446179.1:p.Gly127Glu
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.501G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.380G>A
  hgvsp: ENSP00000325369.7:p.Gly127Glu
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly127Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

5-115238623-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238623
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238623
    reference: chr 5
allele count: 19
allele frequency: 1.56631273494691e-4
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.387A>G
  hgvsp: ENST00000506430.2:c.387A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.508A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.464A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.387A>G
  hgvsp: ENST00000316788.7:c.387A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7768A>G
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12853
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val129Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-115238624-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238624
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238624
    reference: chr 5
allele count: 3
allele frequency: 2.473084595980413e-5
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.388T>C
  hgvsp: ENST00000316788.7:c.388T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.509T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7769T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.465T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.388T>C
  hgvsp: ENST00000506430.2:c.388T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12848
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Leu130Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

5-115238625-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238625
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238625
    reference: chr 5
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.389T>A
  hgvsp: ENSP00000325369.7:p.Leu130Ter
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.389T>A
  hgvsp: ENSP00000446179.1:p.Leu130Ter
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.510T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7770T>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.466T>A
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu130Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

5-115238631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238631
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238631
    reference: chr 5
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.472C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.395C>T
  hgvsp: ENSP00000446179.1:p.Thr132Ile
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.516C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.395C>T
  hgvsp: ENSP00000325369.7:p.Thr132Ile
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7776C>T
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr132Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

5-115238632-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238632
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238632
    reference: chr 5
allele count: 4
allele frequency: 3.297283038776049e-5
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.396A>G
  hgvsp: ENST00000316788.7:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7777A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.517A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.396A>G
  hgvsp: ENST00000506430.2:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.473A>G
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr132Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

5-115238635-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238635
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238635
    reference: chr 5
allele count: 137
allele frequency: 1.135177236796314e-3
allele num: 120686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.520T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.476T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.399T>C
  hgvsp: ENST00000316788.7:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.399T>C
  hgvsp: ENST00000506430.2:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7780T>C
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17257
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9811
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 26632
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 7526
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 11538
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 26
hgvs: p.Asn133Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

5-115238644-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238644
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238644
    reference: chr 5
allele count: 5
allele frequency: 4.121535849118816e-5
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.408G>C
  hgvsp: ENSP00000325369.7:p.Glu136Asp
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7789G>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.485G>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.408G>C
  hgvsp: ENSP00000446179.1:p.Glu136Asp
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.529G>C
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 17286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu136Asp
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: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/5-115238654-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238654
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238654
    reference: chr 5
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7799C>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.418C>A
  hgvsp: ENSP00000446179.1:p.Gln140Lys
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.418C>A
  hgvsp: ENSP00000325369.7:p.Gln140Lys
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.495C>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.539C>A
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln140Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

5-115238654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238654
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238654
    reference: chr 5
allele count: 3
allele frequency: 2.474063566939913e-5
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7799C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.495C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.539C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.418C>T
  hgvsp: ENSP00000325369.7:p.Gln140Ter
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.418C>T
  hgvsp: ENSP00000446179.1:p.Gln140Ter
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln140Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

5-115238665-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238665
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238665
    reference: chr 5
allele count: 23
allele frequency: 1.899005911687969e-4
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7810A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.429A>G
  hgvsp: ENST00000316788.7:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.429A>G
  hgvsp: ENST00000506430.2:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.550A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.506A>G
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11619
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 26728
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala143Ala
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

5-115238670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238670
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238670
    reference: chr 5
allele count: 77
allele frequency: 6.406416400425985e-4
allele num: 120192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.511A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.434A>G
  hgvsp: ENSP00000446179.1:p.Asn145Ser
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7815A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.434A>G
  hgvsp: ENSP00000325369.7:p.Asn145Ser
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.555A>G
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 16018
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25252
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Asn145Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

5-115238689-G-GGCTGGCTTAGCAGGAGCTCTAGCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238689
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238714
    reference: chr 5
allele count: 694
allele frequency: 5.877570378400352e-3
allele num: 118076
alternate allele: GGCTGGCTTAGCAGGAGCTCTAGCCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15809
  bin: 2.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 4.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 2.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 3.25e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 5.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 3.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 4.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 5.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.5e0
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 3.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.5e0
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 4.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 2.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 11313
  bin: 9.75e1
  variant carriers: 269
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 2.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 9.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 16757
  bin: 6.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 1.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 8.25e1
  variant carriers: 19
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

5-115238689-G-GGCTGGCTTAGCAGGAGCTCTAGCCCGTGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238689
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238719
    reference: chr 5
allele count: 799
allele frequency: 6.766828144584844e-3
allele num: 118076
alternate allele: GGCTGGCTTAGCAGGAGCTCTAGCCCGTGCT
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15809
  bin: 2.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 2.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 5.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 4.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 3.25e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 4.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 3.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.5e0
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 16757
  bin: 6.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 5877
  bin: 6.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 8.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.5e0
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 7.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 3.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 11313
  bin: 9.75e1
  variant carriers: 295
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 4.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 2.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 1.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 2.25e1
  variant carriers: 47
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

5-115238689-G-GGCTGGCTTAGCAGGAGCTCTAGCCCGTGCTGTATCAGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238689
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238728
    reference: chr 5
allele count: 1860
allele frequency: 1.575256614383956e-2
allele num: 118076
alternate allele: GGCTGGCTTAGCAGGAGCTCTAGCCCGTGCTGTATCAGCT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 5.25e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 3.25e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 3.75e1
  variant carriers: 258
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 1.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 2.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 15809
  bin: 2.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 4.75e1
  variant carriers: 253
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 4.25e1
  variant carriers: 249
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 7.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 3.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.5e0
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 4.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 5.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 1.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 2.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 8.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 11313
  bin: 9.75e1
  variant carriers: 1101
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.5e0
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 7.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 16757
  bin: 6.25e1
  variant carriers: 60
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

5-115238690-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238690
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238691
    reference: chr 5
allele count: 1349
allele frequency: 1.157264429345961e-2
allele num: 116568
alternate allele: GC
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+1_453+2insC
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7835_72+7836insC
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+1_530+2insC
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.575_576insC
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+1_453+2insC
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 3.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 2.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 2.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.25e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.25e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 4.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 1.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 8.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 5.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 6.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.5e0
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 12948
  bin: 9.75e1
  variant carriers: 840
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 14888
  bin: 6.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 3.75e1
  variant carriers: 36
hgvs: c.453+1_453+2insC
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

5-115238690-G-GCTGGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238690
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238696
    reference: chr 5
allele count: 1335
allele frequency: 1.145254272184476e-2
allele num: 116568
alternate allele: GCTGGCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+1_530+2insCTGGCT
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+1_453+2insCTGGCT
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+1_453+2insCTGGCT
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.575_576insCTGGCT
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 3.25e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 2.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 2.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.25e1
  variant carriers: 222
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 4.75e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.75e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.75e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 1.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 2.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 8.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.5e0
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 8.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 14888
  bin: 6.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 5.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 9.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 6.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 1.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 3.75e1
  variant carriers: 52
hgvs: c.453+1_453+2insCTGGCT
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-115238690-G-GCTGGCTTAGCAGGAGCTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238690
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238708
    reference: chr 5
allele count: 572
allele frequency: 4.907007068835358e-3
allele num: 116568
alternate allele: GCTGGCTTAGCAGGAGCTC
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 3.25e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 4.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 2.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 2.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 1.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.5e0
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 5.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 8.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 3.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 1.25e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 1.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 2.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 12948
  bin: 9.75e1
  variant carriers: 97
hgvs: c.453+1_453+2insCTGGCTTAGCAGGAGCTC
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

5-115238690-G-GCTGGCTTAGCAGGAGCTCTAGCCCGTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238690
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238718
    reference: chr 5
allele count: 620
allele frequency: 5.318783885800563e-3
allele num: 116568
alternate allele: GCTGGCTTAGCAGGAGCTCTAGCCCGTGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 4.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 2.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 2.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 3.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 3.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 9.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 6.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 5.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 2.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 1.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 1.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 12948
  bin: 9.75e1
  variant carriers: 215
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 14888
  bin: 6.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.5e0
  variant carriers: 24
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

5-115238690-G-GCTGGCTTAGCAGGAGCTCTAGCCCGTGCTGTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238690
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238722
    reference: chr 5
allele count: 347
allele frequency: 2.97680323931096e-3
allele num: 116568
alternate allele: GCTGGCTTAGCAGGAGCTCTAGCCCGTGCTGTA
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 3.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 4.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 2.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 1.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 3.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 12948
  bin: 9.75e1
  variant carriers: 123
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 2.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.5e0
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 14888
  bin: 6.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 6.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 8.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 1.75e1
  variant carriers: 9
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

5-115238690-G-GCTGGCTTAGCAGGAGCTCTAGCCCGTGCTGTATCAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238690
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238727
    reference: chr 5
allele count: 705
allele frequency: 6.047971999176447e-3
allele num: 116568
alternate allele: GCTGGCTTAGCAGGAGCTCTAGCCCGTGCTGTATCAGC
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 4.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 2.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 2.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 3.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 6.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 2.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 5.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 14888
  bin: 6.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 3.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 8.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 1.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 1.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 7.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 12948
  bin: 9.75e1
  variant carriers: 324
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

5-115238691-T-TGGCTTAGCAGGAGCTCTAGCCCGTGCTGTATCAGCTGTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238691
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238730
    reference: chr 5
allele count: 1325
allele frequency: 3.384591805456218e-2
allele num: 39148
alternate allele: TGGCTTAGCAGGAGCTCTAGCCCGTGCTGTATCAGCTGTA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 5.25e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 4.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 3.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 3.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 2.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 4.25e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7742
  bin: 2.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 9.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 6.25e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 5.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 37119
  bin: 2.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 4.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 1.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 2.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 7.5e0
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 3.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 1.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 4897
  bin: 6.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 9.25e1
  variant carriers: 39
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

5-115238692-A-AGCAGGAGCTCTAGCCCGTGCTGTATC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238692
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238718
    reference: chr 5
allele count: 1312
allele frequency: 2.772260491061996e-2
allele num: 47326
alternate allele: AGCAGGAGCTCTAGCCCGTGCTGTATC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 4.75e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 5.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8436
  bin: 3.25e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 5.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 1.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 3.75e1
  variant carriers: 240
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 2.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 2.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 4.25e1
  variant carriers: 207
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 1.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.25e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 4.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 32092
  bin: 2.5e0
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 6.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.5e0
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 2.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 6.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 2.25e1
  variant carriers: 48
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

5-115238692-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238692
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238692
    reference: chr 5
allele count: 173
allele frequency: 3.655495921903393e-3
allele num: 47326
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+3A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.577A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+3A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7837A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+3A>T
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 2.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 2.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8436
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 1.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32092
  bin: 2.5e0
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 2.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 2.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 4.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 1.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 1.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.5e0
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.25e1
  variant carriers: 12
hgvs: c.453+3A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

5-115238693-A-AAGAATAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238693
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238700
    reference: chr 5
allele count: 327
allele frequency: 6.986582343389454e-3
allele num: 46804
alternate allele: AAGAATAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+4_530+5insAGAATAT
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+4_453+5insAGAATAT
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+4_453+5insAGAATAT
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.578_579insAGAATAT
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 4.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 4.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 5.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 5.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 32575
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.25e1
  variant carriers: 7
hgvs: c.453+4_453+5insAGAATAT
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/5-115238695-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238695
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238695
    reference: chr 5
allele count: 174
allele frequency: 4.019961186581647e-3
allele num: 43284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.580A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+6A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+6A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+6A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7840A>C
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 1.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 2.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 2.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 1.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 4.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 7.5e0
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 2.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 34424
  bin: 2.5e0
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 4.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 3.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 21
hgvs: c.453+6A>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/5-115238696-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238696
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238696
    reference: chr 5
allele count: 49
allele frequency: 1.079913606911447e-3
allele num: 45374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7841A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+7A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+7A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+7A>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.581A>C
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6131
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 1
hgvs: c.453+7A>C
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

5-115238697-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238697
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238697
    reference: chr 5
allele count: 97
allele frequency: 8.180545482146171e-4
allele num: 118574
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+8T>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+8T>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7842T>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.582T>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+8T>G
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 1.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 2.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 5427
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 3.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 9803
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.75e1
  variant carriers: 16
hgvs: c.453+8T>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-115238713-TAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238713
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238710
    reference: chr 5
allele count: 6
allele frequency: 1.280792383554626e-4
allele num: 46846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+28_530+30delAAG
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7862_72+7864delAAG
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+28_453+30delAAG
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.602_604delAAG
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+28_453+30delAAG
  variant of: http://identifiers.org/hgnc/2013
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8951
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5004
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31417
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: TAAG
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

5-115238714-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238714
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238714
    reference: chr 5
allele count: 1
allele frequency: 1.944692932985882e-5
allele num: 51422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7859A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+25A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.599A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+25A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+25A>T
  variant of: http://identifiers.org/hgnc/2013
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12270
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

5-115238716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238716
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238716
    reference: chr 5
allele count: 18556
allele frequency: 2.844616139318126e-1
allele num: 65232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7861G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+27G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.601G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+27G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+27G>A
  variant of: http://identifiers.org/hgnc/2013
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.75e1
  variant carriers: 652
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 4.25e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 9859
  bin: 1.75e1
  variant carriers: 3111
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 1.25e1
  variant carriers: 2019
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.75e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 9.75e1
  variant carriers: 1284
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 7.5e0
  variant carriers: 596
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 3.25e1
  variant carriers: 1387
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 2.75e1
  variant carriers: 2597
genotype depth: GenotypeDepth
  all individuals: 11693
  bin: 2.25e1
  variant carriers: 3454
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 4764
  bin: 2.25e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 22458
  bin: 2.5e0
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 115
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.25e1
  variant carriers: 159
genotype quality: GenotypeQuality
  all individuals: 16596
  bin: 9.75e1
  variant carriers: 14345
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.25e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.25e1
  variant carriers: 155
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 6.25e1
  variant carriers: 234
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 3.75e1
  variant carriers: 162
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.75e1
  variant carriers: 154
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 125
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 4.75e1
  variant carriers: 184
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.5e0
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 6.75e1
  variant carriers: 233
num of homozygotes: 2305
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-115238717-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238717
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238717
    reference: chr 5
allele count: 6
allele frequency: 1.286063360054872e-4
allele num: 46654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.602A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+28A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7862A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+28A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+28A>T
  variant of: http://identifiers.org/hgnc/2013
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9963
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10989
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4525
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30667
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

5-115238720-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238720
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238720
    reference: chr 5
allele count: 1
allele frequency: 8.951589802348897e-6
allele num: 111712
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+31G>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.605G>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+31G>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7865G>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+31G>T
  variant of: http://identifiers.org/hgnc/2013
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8957
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4591
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5997
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10228
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

5-115238722-TCTAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238722
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238717
    reference: chr 5
allele count: 1
allele frequency: 1.829022935947617e-5
allele num: 54674
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+35_453+39delTAAGC
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+35_453+39delTAAGC
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.609_613delTAAGC
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7869_72+7873delTAAGC
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+35_530+39delTAAGC
  variant of: http://identifiers.org/hgnc/2013
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24939
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TCTAAG
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-115238723-C-CATGATTCACT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238723
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238733
    reference: chr 5
allele count: 1
allele frequency: 1.83864087666397e-5
allele num: 54388
alternate allele: CATGATTCACT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  variant of: http://identifiers.org/hgnc/2013
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8195
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4525
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-115238731-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238731
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238731
    reference: chr 5
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7876G>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+42G>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.616G>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+42G>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+42G>C
  variant of: http://identifiers.org/hgnc/2013
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14999
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16845
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4545
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

5-115238732-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238732
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238732
    reference: chr 5
allele count: 1
allele frequency: 9.572309223877169e-6
allele num: 104468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+43A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+43A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7877A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+43A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.617A>T
  variant of: http://identifiers.org/hgnc/2013
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 5281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4941
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

5-115238735-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238735
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238735
    reference: chr 5
allele count: 1
allele frequency: 9.76657876745776e-6
allele num: 102390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.620A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+46A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7880A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+46A>G
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+46A>G
  variant of: http://identifiers.org/hgnc/2013
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13615
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 397
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genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2955
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
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genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5410
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genotype quality: GenotypeQuality
  all individuals: 2147
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5135
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

5-115238739-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115238739
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115238739
    reference: chr 5
allele count: 1
allele frequency: 1.307873397855088e-5
allele num: 76460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.453+50A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+50A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+50A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000515066
  gene symbol: AP3S1
  hgvsc: ENST00000515066.2:n.624A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.72+7884A>T
  variant of: http://identifiers.org/hgnc/2013
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14398
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9338
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

5-115242470-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115242470
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115242470
    reference: chr 5
allele count: 1
allele frequency: 1.292657704239917e-4
allele num: 7736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.454-48T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+3781T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.73-6589T>C
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+3781T>C
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 178
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 539
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genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS

5-115242472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115242472
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115242472
    reference: chr 5
allele count: 1
allele frequency: 1.317175974710221e-4
allele num: 7592
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+3783C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.73-6587C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.454-46C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+3783C>T
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1302
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

5-115242511-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115242511
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115242511
    reference: chr 5
allele count: 1
allele frequency: 1.081548777849881e-4
allele num: 9246
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.453+3822C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.73-6548C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.454-7C>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.530+3822C>T
  variant of: http://identifiers.org/hgnc/2013
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: c.454-7C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

5-115249010-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115249010
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115249010
    reference: chr 5
allele count: 2
allele frequency: 1.760873393203029e-5
allele num: 113580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.73-49A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.454-49A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.531-49A>T
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.*54-49A>T
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15774
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5380
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

5-115249016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115249016
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115249016
    reference: chr 5
allele count: 1
allele frequency: 8.831425745372332e-6
allele num: 113232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.531-43G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.73-43G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.*54-43G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.454-43G>A
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15783
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ

5-115249018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115249018
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 115249018
    reference: chr 5
allele count: 1
allele frequency: 8.832517797523362e-6
allele num: 113218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000446179
  ensembl transcript: ENST00000506430
  gene symbol: AP3S1
  hgvsc: ENST00000506430.2:c.*54-41G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl protein: ENSP00000325369
  ensembl transcript: ENST00000316788
  gene symbol: AP3S1
  hgvsc: ENST00000316788.7:c.454-41G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000395548
  gene symbol: AP3S1
  hgvsc: ENST00000395548.2:n.531-41G>A
  variant of: http://identifiers.org/hgnc/2013
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177879
  ensembl transcript: ENST00000505423
  gene symbol: AP3S1
  hgvsc: ENST00000505423.1:n.73-41G>A
  variant of: http://identifiers.org/hgnc/2013
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 400
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3460
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4569
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1112
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15748
num of homozygotes: 0

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

African
type: Population
allele count: 6
allele frequency: 5.992808629644426e-4
allele num: 10012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

FS
type: SiteQuality
SIO_000300: 1.412e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 1.52305e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 556
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5355
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4563
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11100
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62300
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.002002002002002e-4
allele num: 9990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

DP
type: SiteQuality
SIO_000300: 1.519665e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

GenotypeQuality
all individuals: 1416
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 12
allele frequency: 1.083815028901734e-3
allele num: 11072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 2.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.513748e6

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

GenotypeQuality
all individuals: 37604
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3433
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4564
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.612643122077084e-5
allele num: 62010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.287e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.43e0

DP
type: SiteQuality
SIO_000300: 1.510465e6

QD
type: SiteQuality
SIO_000300: 1.04e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.039e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.295e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.821e0

GenotypeQuality
all individuals: 1634
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.820830298616169e-4
allele num: 10984
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15664
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.478835e6

FS
type: SiteQuality
SIO_000300: 1.342e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.63e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

MQ
type: SiteQuality
SIO_000300: 5.808e1

GenotypeQuality
all individuals: 1383
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.638699528054536e-5
allele num: 61024
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.536e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 4.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.233e0

FS
type: SiteQuality
SIO_000300: 2.128e0

DP
type: SiteQuality
SIO_000300: 1.460565e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.157509157509158e-5
allele num: 10920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.641550937325585e-5
allele num: 60918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.294e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

FS
type: SiteQuality
SIO_000300: 6.575e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.451575e6

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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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60672
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15610
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.840264998159735e-4
allele num: 10868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

FS
type: SiteQuality
SIO_000300: 5.848e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.216e0

QD
type: SiteQuality
SIO_000300: 1.438e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

DP
type: SiteQuality
SIO_000300: 1.435056e6

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.944620253164557e-5
allele num: 60672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.435056e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.438e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.216e0

MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

FS
type: SiteQuality
SIO_000300: 5.848e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.050640634533252e-4
allele num: 9834
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

FS
type: SiteQuality
SIO_000300: 1.0491e1

DP
type: SiteQuality
SIO_000300: 1.407393e6

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -8.81e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.26e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 34

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9361
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.844678103670909e-4
allele num: 10842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.631739505272233e-5
allele num: 60316
num of homozygotes: 0

South Asian
type: Population
allele count: 29
allele frequency: 1.860166773572803e-3
allele num: 15590
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

QD
type: SiteQuality
SIO_000300: 1.403e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
SIO_000300: 1.407505e6

GenotypeQuality
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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: 9788
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15528
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.673584147810952e-5
allele num: 59752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10778
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.364513e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59034
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10706
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.026272577996716e-4
allele num: 9744
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South Asian
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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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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15434
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.707358716066245e-5
allele num: 58570
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-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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East Asian
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allele num: 8012
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South Asian
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Latino
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European (Non-Finnish)
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allele frequency: 1.72188167229148e-5
allele num: 58076
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 828
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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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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European (Non-Finnish)
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allele frequency: 5.196604884808592e-5
allele num: 57730
num of homozygotes: 0

East Asian
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Latino
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South Asian
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African
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Other
type: Population
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allele frequency: 1.207729468599034e-3
allele num: 828
num of homozygotes: 0

European (Finnish)
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allele count: 15
allele frequency: 2.417015791169836e-3
allele num: 6206
num of homozygotes: 0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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Other
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South Asian
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African
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Latino
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
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VQSLOD
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QD
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DP
type: SiteQuality
SIO_000300: 1.306214e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e0

GenotypeQuality
all individuals: 1339
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5977
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 1.026957637997433e-3
allele num: 7790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.786926843215039e-5
allele num: 55962
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.306419e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

GenotypeQuality
all individuals: 6185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1318
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.94912559618442e-5
allele num: 12580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6024
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.451e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.007e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.11e-1

DP
type: SiteQuality
SIO_000300: 1.113953e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

GenotypeQuality
all individuals: 1524
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13128
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.257545271629779e-4
allele num: 7952
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.138578e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.36e0

MQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.094e0

QD
type: SiteQuality
SIO_000300: 2.03e1

VQSLOD
type: SiteQuality
SIO_000300: -2.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55510
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.481920569057498e-4
allele num: 6748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.858e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.845e1

DP
type: SiteQuality
SIO_000300: 1.193652e6

QD
type: SiteQuality
SIO_000300: 1.671e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.607993850883935e-5
allele num: 10408
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.315e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

DP
type: SiteQuality
SIO_000300: 1.273654e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

QD
type: SiteQuality
SIO_000300: 2.13e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.172e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57284
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.183992422448496e-4
allele num: 8446
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13902
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.159186664224217e-5
allele num: 10918
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.678e0

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.664e1

DP
type: SiteQuality
SIO_000300: 1.45074e6

GenotypeQuality
all individuals: 942
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2635
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1406
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variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9196
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.439979392065946e-5
allele num: 15528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

QD
type: SiteQuality
SIO_000300: 9.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.611674e6

GenotypeQuality
all individuals: 3006
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variant carriers: 0

GenotypeQuality
all individuals: 3693
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7347
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GenotypeQuality
all individuals: 316
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.374453193350831e-4
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218175173589962e-4
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.1000091000091e-5
allele num: 65934
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.013376570733685e-4
allele num: 9868
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173984503404555e-4
allele num: 8518
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.61e-1

QD
type: SiteQuality
SIO_000300: 1.162e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.267e-1

MQ
type: SiteQuality
SIO_000300: 5.524e1

FS
type: SiteQuality
SIO_000300: 6.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

DP
type: SiteQuality
SIO_000300: 2.081181e6

GenotypeQuality
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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: 3029
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.051019488904237e-4
allele num: 66602
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.083179e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.423e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 5.56e0

FS
type: SiteQuality
SIO_000300: 2.0029e1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.389e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.416e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

FS
type: SiteQuality
SIO_000300: 2.077e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.35e0

VQSLOD
type: SiteQuality
SIO_000300: -4.52e0

MQ
type: SiteQuality
SIO_000300: 5.483e1

DP
type: SiteQuality
SIO_000300: 2.083973e6

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2914
bin: 8.25e1
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GenotypeQuality
all individuals: 1510
bin: 8.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.556500607533414e-4
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 88
allele frequency: 1.328943791718264e-3
allele num: 66218
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.870907390084191e-3
allele num: 8552
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.650079085046843e-4
allele num: 16438
num of homozygotes: 0

African
type: Population
allele count: 65
allele frequency: 6.515637530072173e-3
allele num: 9976
num of homozygotes: 0

Latino
type: Population
allele count: 25
allele frequency: 2.17732102421181e-3
allele num: 11482
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.891e0

MQ
type: SiteQuality
SIO_000300: 5.246e1

VQSLOD
type: SiteQuality
SIO_000300: -2.234e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.527e0

QD
type: SiteQuality
SIO_000300: 4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.411e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e0

DP
type: SiteQuality
SIO_000300: 2.191803e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 3731
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variant carriers: 0

GenotypeQuality
all individuals: 7530
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10308
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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Other
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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MQRankSum
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QD
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DP
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MQ
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -3.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.13e-1

FS
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ReadPosRankSum
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SIO_000300: 6.33e-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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East Asian
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allele frequency: 0.0e0
allele num: 8650
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
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African
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allele frequency: 4.831851565519907e-4
allele num: 10348
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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MQRankSum
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QD
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
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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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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 14
allele frequency: 2.099076406381192e-4
allele num: 66696
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Finnish)
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allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.349e1

MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.378e0

GenotypeQuality
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GenotypeQuality
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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: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10358
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Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

MQRankSum
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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.156325e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e0

MQRankSum
type: SiteQuality
SIO_000300: -2.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e0

FS
type: SiteQuality
SIO_000300: 1.0939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.208e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.354e1

QD
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
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GenotypeQuality
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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: 10364
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.997181324777355e-5
allele num: 66698
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.9693e1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.8e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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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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variant carriers: 3

European (Non-Finnish)
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allele count: 57
allele frequency: 8.577103647526183e-4
allele num: 66456
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 1.397624039133473e-3
allele num: 8586
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Other
type: Population
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allele num: 906
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Latino
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allele count: 18
allele frequency: 1.562228779725742e-3
allele num: 11522
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European (Finnish)
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allele count: 2
allele frequency: 3.029385034837928e-4
allele num: 6602
num of homozygotes: 0

African
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allele count: 41
allele frequency: 4.039408866995074e-3
allele num: 10150
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.644314868804665e-4
allele num: 16464
num of homozygotes: 0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
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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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Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
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allele frequency: 3.028834504482675e-4
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African
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East Asian
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Other
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allele frequency: 0.0e0
allele num: 908
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

QD
type: SiteQuality
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DP
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MQRankSum
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66650
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African
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allele num: 10370
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
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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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East Asian
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allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
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South Asian
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Latino
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allele count: 0
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num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.928640308582449e-4
allele num: 10370
num of homozygotes: 0

MQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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QD
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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MQ
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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African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.213592233009709e-3
allele num: 16480
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.686e0

MQRankSum
type: SiteQuality
SIO_000300: 2.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

DP
type: SiteQuality
SIO_000300: 2.106003e6

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.437e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

GenotypeQuality
all individuals: 3625
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 11187
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 341
bin: 5.25e1
variant carriers: 8

GenotypeQuality
all individuals: 7259
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2881
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2236
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.302761855132882e-3
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.441704309608106e-4
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.14808309611774e-4
allele num: 66044
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.170503316426063e-3
allele num: 10252
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.177301624676242e-3
allele num: 8494
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.842e0

QD
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 2.122612e6

FS
type: SiteQuality
SIO_000300: 9.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.5e0

MQ
type: SiteQuality
SIO_000300: 5.376e1

VQSLOD
type: SiteQuality
SIO_000300: -2.715e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

GenotypeQuality
all individuals: 2736
bin: 7.25e1
variant carriers: 30

GenotypeQuality
all individuals: 3387
bin: 7.75e1
variant carriers: 22

GenotypeQuality
all individuals: 1410
bin: 8.75e1
variant carriers: 20

GenotypeQuality
all individuals: 1239
bin: 5.75e1
variant carriers: 35

GenotypeQuality
all individuals: 5877
bin: 6.75e1
variant carriers: 21

Latino
type: Population
allele count: 62
allele frequency: 5.493531809321283e-3
allele num: 11286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 41
allele frequency: 6.378344741754823e-3
allele num: 6428
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 46
allele frequency: 5.465779467680608e-3
allele num: 8416
num of homozygotes: 0

African
type: Population
allele count: 79
allele frequency: 7.792463996843559e-3
allele num: 10138
num of homozygotes: 0

South Asian
type: Population
allele count: 29
allele frequency: 1.789019123997532e-3
allele num: 16210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 436
allele frequency: 6.737961303084627e-3
allele num: 64708
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.568e0

MQ
type: SiteQuality
SIO_000300: 5.651e1

DP
type: SiteQuality
SIO_000300: 2.041643e6

FS
type: SiteQuality
SIO_000300: 1.285e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

QD
type: SiteQuality
SIO_000300: 1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeQuality
all individuals: 3387
bin: 7.75e1
variant carriers: 36

GenotypeQuality
all individuals: 1410
bin: 8.75e1
variant carriers: 25

GenotypeQuality
all individuals: 2178
bin: 5.25e1
variant carriers: 40

GenotypeQuality
all individuals: 1239
bin: 5.75e1
variant carriers: 24

GenotypeQuality
all individuals: 2093
bin: 9.25e1
variant carriers: 22

European (Non-Finnish)
type: Population
allele count: 497
allele frequency: 7.680657723929035e-3
allele num: 64708
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 7.865168539325843e-3
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 51
allele frequency: 6.059885931558935e-3
allele num: 8416
num of homozygotes: 0

African
type: Population
allele count: 49
allele frequency: 4.83330045373841e-3
allele num: 10138
num of homozygotes: 0

South Asian
type: Population
allele count: 44
allele frequency: 2.714373843306601e-3
allele num: 16210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 48
allele frequency: 7.4673304293715e-3
allele num: 6428
num of homozygotes: 0

Latino
type: Population
allele count: 103
allele frequency: 9.126351231614389e-3
allele num: 11286
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.6e-1

DP
type: SiteQuality
SIO_000300: 2.041643e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.568e0

FS
type: SiteQuality
SIO_000300: 1.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.651e1

GenotypeQuality
all individuals: 5877
bin: 6.75e1
variant carriers: 60

GenotypeQuality
all individuals: 2093
bin: 9.25e1
variant carriers: 47

GenotypeQuality
all individuals: 2178
bin: 5.25e1
variant carriers: 47

GenotypeQuality
all individuals: 1948
bin: 2.25e1
variant carriers: 35

GenotypeQuality
all individuals: 2771
bin: 8.25e1
variant carriers: 69

African
type: Population
allele count: 135
allele frequency: 1.331623594397317e-2
allele num: 10138
num of homozygotes: 0

South Asian
type: Population
allele count: 94
allele frequency: 5.798889574336829e-3
allele num: 16210
num of homozygotes: 0

East Asian
type: Population
allele count: 105
allele frequency: 1.247623574144487e-2
allele num: 8416
num of homozygotes: 0

Other
type: Population
allele count: 18
allele frequency: 2.022471910112359e-2
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1118
allele frequency: 1.727761636891884e-2
allele num: 64708
num of homozygotes: 0

Latino
type: Population
allele count: 216
allele frequency: 1.913875598086124e-2
allele num: 11286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 174
allele frequency: 2.706907280647169e-2
allele num: 6428
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

QD
type: SiteQuality
SIO_000300: 1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.651e1

FS
type: SiteQuality
SIO_000300: 1.285e0

MQRankSum
type: SiteQuality
SIO_000300: -3.568e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

DP
type: SiteQuality
SIO_000300: 2.041643e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

GenotypeQuality
all individuals: 2156
bin: 9.25e1
variant carriers: 39

GenotypeQuality
all individuals: 2070
bin: 2.25e1
variant carriers: 23

GenotypeQuality
all individuals: 461
bin: 1.25e1
variant carriers: 27

GenotypeQuality
all individuals: 2755
bin: 8.25e1
variant carriers: 35

GenotypeQuality
all individuals: 2597
bin: 7.25e1
variant carriers: 42

African
type: Population
allele count: 103
allele frequency: 1.029588164734106e-2
allele num: 10004
num of homozygotes: 0

Latino
type: Population
allele count: 121
allele frequency: 1.089108910891089e-2
allele num: 11110
num of homozygotes: 0

East Asian
type: Population
allele count: 66
allele frequency: 7.907979870596693e-3
allele num: 8346
num of homozygotes: 0

South Asian
type: Population
allele count: 51
allele frequency: 3.171247357293869e-3
allele num: 16082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 128
allele frequency: 2.031101237702317e-2
allele num: 6302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 870
allele frequency: 1.362824649895047e-2
allele num: 63838
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.128668171557562e-2
allele num: 886
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

FS
type: SiteQuality
SIO_000300: 1.279e0

VQSLOD
type: SiteQuality
SIO_000300: -4.385e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.99e-2

MQ
type: SiteQuality
SIO_000300: 5.696e1

MQRankSum
type: SiteQuality
SIO_000300: -3.269e0

QD
type: SiteQuality
SIO_000300: 3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

DP
type: SiteQuality
SIO_000300: 2.120169e6

GenotypeQuality
all individuals: 465
bin: 2.5e0
variant carriers: 50

GenotypeQuality
all individuals: 1088
bin: 2.75e1
variant carriers: 48

GenotypeQuality
all individuals: 461
bin: 1.25e1
variant carriers: 56

GenotypeQuality
all individuals: 1104
bin: 5.75e1
variant carriers: 43

GenotypeQuality
all individuals: 12948
bin: 9.75e1
variant carriers: 590

Other
type: Population
allele count: 6
allele frequency: 6.772009029345372e-3
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 120
allele frequency: 1.199520191923231e-2
allele num: 10004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 96
allele frequency: 1.523325928276738e-2
allele num: 6302
num of homozygotes: 0

Latino
type: Population
allele count: 149
allele frequency: 1.341134113411341e-2
allele num: 11110
num of homozygotes: 0

South Asian
type: Population
allele count: 76
allele frequency: 4.725780375575177e-3
allele num: 16082
num of homozygotes: 0

East Asian
type: Population
allele count: 74
allele frequency: 8.866522885214475e-3
allele num: 8346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 814
allele frequency: 1.275102603465021e-2
allele num: 63838
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.385e-1

FS
type: SiteQuality
SIO_000300: 1.279e0

MQRankSum
type: SiteQuality
SIO_000300: -3.269e0

MQ
type: SiteQuality
SIO_000300: 5.696e1

QD
type: SiteQuality
SIO_000300: 3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 2.120169e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.99e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

GenotypeQuality
all individuals: 14888
bin: 6.25e1
variant carriers: 24

GenotypeQuality
all individuals: 2755
bin: 8.25e1
variant carriers: 17

GenotypeQuality
all individuals: 3303
bin: 7.75e1
variant carriers: 12

GenotypeQuality
all individuals: 5400
bin: 6.75e1
variant carriers: 36

European (Non-Finnish)
type: Population
allele count: 329
allele frequency: 5.153670227764028e-3
allele num: 63838
num of homozygotes: 0

South Asian
type: Population
allele count: 48
allele frequency: 2.984703395100112e-3
allele num: 16082
num of homozygotes: 0

Latino
type: Population
allele count: 50
allele frequency: 4.500450045004501e-3
allele num: 11110
num of homozygotes: 0

East Asian
type: Population
allele count: 61
allele frequency: 7.30889048646058e-3
allele num: 8346
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.257336343115124e-3
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 26
allele frequency: 4.125674389082831e-3
allele num: 6302
num of homozygotes: 0

African
type: Population
allele count: 56
allele frequency: 5.597760895641743e-3
allele num: 10004
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.269e0

VQSLOD
type: SiteQuality
SIO_000300: -4.385e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.99e-2

FS
type: SiteQuality
SIO_000300: 1.279e0

QD
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 2.120169e6

MQ
type: SiteQuality
SIO_000300: 5.696e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

GenotypeQuality
all individuals: 2755
bin: 8.25e1
variant carriers: 30

GenotypeQuality
all individuals: 1524
bin: 8.75e1
variant carriers: 21

GenotypeQuality
all individuals: 1104
bin: 5.75e1
variant carriers: 19

GenotypeQuality
all individuals: 2597
bin: 7.25e1
variant carriers: 30

African
type: Population
allele count: 52
allele frequency: 5.197920831667333e-3
allele num: 10004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 408
allele frequency: 6.391177668473323e-3
allele num: 63838
num of homozygotes: 0

South Asian
type: Population
allele count: 26
allele frequency: 1.616714339012561e-3
allele num: 16082
num of homozygotes: 0

East Asian
type: Population
allele count: 46
allele frequency: 5.511622334052241e-3
allele num: 8346
num of homozygotes: 0

Latino
type: Population
allele count: 57
allele frequency: 5.130513051305131e-3
allele num: 11110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 25
allele frequency: 3.966994604887337e-3
allele num: 6302
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.772009029345372e-3
allele num: 886
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

FS
type: SiteQuality
SIO_000300: 1.279e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.99e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.269e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 2.120169e6

VQSLOD
type: SiteQuality
SIO_000300: -4.385e-1

MQ
type: SiteQuality
SIO_000300: 5.696e1

GenotypeQuality
all individuals: 2156
bin: 9.25e1
variant carriers: 17

GenotypeQuality
all individuals: 1248
bin: 4.25e1
variant carriers: 14

GenotypeQuality
all individuals: 1607
bin: 3.25e1
variant carriers: 12

GenotypeQuality
all individuals: 2755
bin: 8.25e1
variant carriers: 14

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.538876547127896e-3
allele num: 6302
num of homozygotes: 0

African
type: Population
allele count: 22
allele frequency: 2.199120351859256e-3
allele num: 10004
num of homozygotes: 0

South Asian
type: Population
allele count: 27
allele frequency: 1.678895659743813e-3
allele num: 16082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 213
allele frequency: 3.336570694570632e-3
allele num: 63838
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.27653965971723e-3
allele num: 8346
num of homozygotes: 0

Latino
type: Population
allele count: 46
allele frequency: 4.140414041404141e-3
allele num: 11110
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.514672686230248e-3
allele num: 886
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 2.120169e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.99e-2

FS
type: SiteQuality
SIO_000300: 1.279e0

MQ
type: SiteQuality
SIO_000300: 5.696e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.385e-1

QD
type: SiteQuality
SIO_000300: 3.3e-1

GenotypeQuality
all individuals: 1104
bin: 5.75e1
variant carriers: 24

GenotypeQuality
all individuals: 1248
bin: 4.25e1
variant carriers: 32

GenotypeQuality
all individuals: 2156
bin: 9.25e1
variant carriers: 23

GenotypeQuality
all individuals: 1524
bin: 8.75e1
variant carriers: 25

East Asian
type: Population
allele count: 41
allele frequency: 4.912532949916127e-3
allele num: 8346
num of homozygotes: 0

South Asian
type: Population
allele count: 27
allele frequency: 1.678895659743813e-3
allele num: 16082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 441
allele frequency: 6.908111156364548e-3
allele num: 63838
num of homozygotes: 0

Latino
type: Population
allele count: 85
allele frequency: 7.65076507650765e-3
allele num: 11110
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 1.015801354401806e-2
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 57
allele frequency: 5.697720911635346e-3
allele num: 10004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 45
allele frequency: 7.140590288797207e-3
allele num: 6302
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.385e-1

FS
type: SiteQuality
SIO_000300: 1.279e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

DP
type: SiteQuality
SIO_000300: 2.120169e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

MQ
type: SiteQuality
SIO_000300: 5.696e1

MQRankSum
type: SiteQuality
SIO_000300: -3.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.99e-2

QD
type: SiteQuality
SIO_000300: 3.3e-1

GenotypeQuality
all individuals: 4033
bin: 9.75e1
variant carriers: 833

GenotypeQuality
all individuals: 874
bin: 3.75e1
variant carriers: 33

GenotypeQuality
all individuals: 720
bin: 4.25e1
variant carriers: 29

GenotypeQuality
all individuals: 1238
bin: 6.75e1
variant carriers: 37

GenotypeQuality
all individuals: 445
bin: 8.25e1
variant carriers: 34

European (Finnish)
type: Population
allele count: 126
allele frequency: 8.433734939759036e-2
allele num: 1494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 862
allele frequency: 4.774565193308962e-2
allele num: 18054
num of homozygotes: 0

Latino
type: Population
allele count: 117
allele frequency: 3.365937859608745e-2
allele num: 3476
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 2.5e-2
allele num: 360
num of homozygotes: 0

African
type: Population
allele count: 99
allele frequency: 3.52815395580898e-2
allele num: 2806
num of homozygotes: 0

East Asian
type: Population
allele count: 62
allele frequency: 2.022178734507502e-2
allele num: 3066
num of homozygotes: 0

South Asian
type: Population
allele count: 50
allele frequency: 5.054589567327133e-3
allele num: 9892
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.115e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.009e-1

QD
type: SiteQuality
SIO_000300: 1.7e-1

FS
type: SiteQuality
SIO_000300: 4.964e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.647e1

MQRankSum
type: SiteQuality
SIO_000300: -4.117e0

DP
type: SiteQuality
SIO_000300: 2.304018e6

GenotypeQuality
all individuals: 3927
bin: 9.75e1
variant carriers: 586

GenotypeQuality
all individuals: 633
bin: 7.75e1
variant carriers: 53

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 41

GenotypeQuality
all individuals: 929
bin: 1.75e1
variant carriers: 60

GenotypeQuality
all individuals: 369
bin: 8.75e1
variant carriers: 54

African
type: Population
allele count: 111
allele frequency: 3.1214848143982e-2
allele num: 3556
num of homozygotes: 0

South Asian
type: Population
allele count: 76
allele frequency: 7.120104927862095e-3
allele num: 10674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 808
allele frequency: 3.636363636363636e-2
allele num: 22220
num of homozygotes: 0

East Asian
type: Population
allele count: 72
allele frequency: 1.835798062213156e-2
allele num: 3922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 95
allele frequency: 4.515209125475285e-2
allele num: 2104
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 1.522842639593909e-2
allele num: 394
num of homozygotes: 0

Latino
type: Population
allele count: 144
allele frequency: 3.231597845601436e-2
allele num: 4456
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.699000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.162e0

DP
type: SiteQuality
SIO_000300: 2.271937e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.83e-2

QD
type: SiteQuality
SIO_000300: 2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.746e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 8.664999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
all individuals: 369
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1654
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 633
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 518
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 700
bin: 7.25e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 100
allele frequency: 4.500450045004501e-3
allele num: 22220
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 4.07955124936257e-3
allele num: 3922
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 3.366247755834829e-3
allele num: 4456
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 4.21822272215973e-3
allele num: 3556
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.538071065989848e-3
allele num: 394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 2.376425855513308e-3
allele num: 2104
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 1.967397414277684e-3
allele num: 10674
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.746e1

FS
type: SiteQuality
SIO_000300: 8.664999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.83e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.162e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.699000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

DP
type: SiteQuality
SIO_000300: 2.271937e6

QD
type: SiteQuality
SIO_000300: 2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 1299
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 472
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 465
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 594
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3499
bin: 9.75e1
variant carriers: 240

GenotypeQuality
all individuals: 6174
bin: 6.25e1
variant carriers: 3

East Asian
type: Population
allele count: 16
allele frequency: 4.197271773347324e-3
allele num: 3812
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 6.58271322266743e-3
allele num: 3494
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 6.314312441534144e-3
allele num: 4276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 44
allele frequency: 2.301255230125523e-2
allele num: 1912
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 1.293900184842884e-3
allele num: 10820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 198
allele frequency: 8.969016126109803e-3
allele num: 22076
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 1.207729468599034e-2
allele num: 414
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0918e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: -1.105e0

DP
type: SiteQuality
SIO_000300: 2.256639e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQ
type: SiteQuality
SIO_000300: 5.638e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.623e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.236e0

QD
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 1228
bin: 1.75e1
variant carriers: 25

GenotypeQuality
all individuals: 542
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 588
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 332
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 5857
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 299
bin: 8.75e1
variant carriers: 5

European (Finnish)
type: Population
allele count: 5
allele frequency: 3.052503052503053e-3
allele num: 1638
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 3.826530612244898e-3
allele num: 3920
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 4.310344827586207e-3
allele num: 3248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 102
allele frequency: 5.097451274362818e-3
allele num: 20010
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 1.995438996579247e-3
allele num: 10524
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 4.491858506457047e-3
allele num: 3562
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.617801047120419e-3
allele num: 382
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.141e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

DP
type: SiteQuality
SIO_000300: 2.190256e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 9.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.734e0

VQSLOD
type: SiteQuality
SIO_000300: -6.798e-1

GenotypeQuality
all individuals: 33349
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1181
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 741
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1658
bin: 6.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1814
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.400263207369807e-5
allele num: 10638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.749271137026239e-3
allele num: 3430
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.669514148424986e-4
allele num: 3746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 41
allele frequency: 1.936337017096439e-3
allele num: 21174
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.788e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.732e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.641e-1

QD
type: SiteQuality
SIO_000300: 3.349e1

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.192668e6

GenotypeQuality
all individuals: 2527
bin: 4.75e1
variant carriers: 11

GenotypeQuality
all individuals: 4164
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3540
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 1.75e1
variant carriers: 10

GenotypeQuality
all individuals: 12302
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 10
allele frequency: 6.174364040503828e-4
allele num: 16196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 61
allele frequency: 9.397917051827202e-4
allele num: 64908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.580152671755725e-4
allele num: 6550
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.129597197898424e-4
allele num: 11420
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.268367587999055e-4
allele num: 8466
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.889546351084812e-4
allele num: 10140
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.011e0

VQSLOD
type: SiteQuality
SIO_000300: -3.964e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: -1.735e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.251e0

FS
type: SiteQuality
SIO_000300: 4.224e0

DP
type: SiteQuality
SIO_000300: 2.170619e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.97e-1

GenotypeQuality
all individuals: 3342
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 533
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22180
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.310536044362292e-4
allele num: 4328
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.45179584120983e-5
allele num: 10580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3668
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.062699256110521e-3
allele num: 3764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

MQ
type: SiteQuality
SIO_000300: 5.527e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 4.601e0

DP
type: SiteQuality
SIO_000300: 1.654145e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.521e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.91e-1

QD
type: SiteQuality
SIO_000300: 1.651e1

GenotypeQuality
all individuals: 3346
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3525
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2394
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.069010416666666e-5
allele num: 24576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4220
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.218e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

QD
type: SiteQuality
SIO_000300: 1.253e1

FS
type: SiteQuality
SIO_000300: 3.222e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.381e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.645191e6

VQSLOD
type: SiteQuality
SIO_000300: 3.09e-1

GenotypeQuality
all individuals: 1532
bin: 2.75e1
variant carriers: 80

GenotypeQuality
all individuals: 656
bin: 7.75e1
variant carriers: 236

GenotypeQuality
all individuals: 547
bin: 8.25e1
variant carriers: 215

GenotypeQuality
all individuals: 526
bin: 1.75e1
variant carriers: 58

GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 212

South Asian
type: Population
allele count: 4031
allele frequency: 3.174515671759332e-1
allele num: 12698
num of homozygotes: 549

Latino
type: Population
allele count: 4517
allele frequency: 5.383790226460071e-1
allele num: 8390
num of homozygotes: 976

African
type: Population
allele count: 217
allele frequency: 4.746281714785652e-2
allele num: 4572
num of homozygotes: 4

Other
type: Population
allele count: 135
allele frequency: 2.454545454545455e-1
allele num: 550
num of homozygotes: 11

European (Non-Finnish)
type: Population
allele count: 6234
allele frequency: 2.068210470439918e-1
allele num: 30142
num of homozygotes: 301

East Asian
type: Population
allele count: 2520
allele frequency: 4.411764705882353e-1
allele num: 5712
num of homozygotes: 401

European (Finnish)
type: Population
allele count: 902
allele frequency: 2.847222222222222e-1
allele num: 3168
num of homozygotes: 63

QD
type: SiteQuality
SIO_000300: 1.597e1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.856e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 1.725065e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-1

GenotypeQuality
all individuals: 533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4368
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 1.669449081803005e-3
allele num: 3594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2982
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.484e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.665234e6

FS
type: SiteQuality
SIO_000300: 3.036e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.919e0

QD
type: SiteQuality
SIO_000300: 1.65e1

VQSLOD
type: SiteQuality
SIO_000300: -4.619e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 610
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5033
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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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: 1.642629521337758e-5
allele num: 60878
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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FS
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QD
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InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 3.557e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 3492
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 4596
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.620302657302151e-5
allele num: 27622
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2674
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BaseQRankSum
type: SiteQuality
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FS
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 5046
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European (Non-Finnish)
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allele frequency: 3.636628118408612e-5
allele num: 27498
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 3394
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European (Finnish)
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allele frequency: 0.0e0
allele num: 2576
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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
allele num: 458
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.784e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
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ReadPosRankSum
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SIO_000300: -1.398e0

VQSLOD
type: SiteQuality
SIO_000300: -5.521e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3580
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4052
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.882841328413284e-5
allele num: 34688
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.264e-1

QD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -7.94e-2

FS
type: SiteQuality
SIO_000300: 1.862e0

ClippingRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14482
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56726
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African
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allele count: 1
allele frequency: 1.127904353710805e-4
allele num: 8866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10554
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6770
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MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.373928e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.545e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.766e-1

FS
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8714
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55560
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14242
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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DP
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4478
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
type: Population
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 4618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.459419576979833e-5
allele num: 40660
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.149330587023687e-4
allele num: 1942
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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MQ
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
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South Asian
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European (Non-Finnish)
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Latino
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 0
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East Asian
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African
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Other
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VQSLOD
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MQ
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DP
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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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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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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Latino
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Other
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QD
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 63180
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African
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Latino
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East Asian
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European (Finnish)
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Other
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South Asian
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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VQSLOD
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DP
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MQ
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