19-2110114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110114
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110114
    reference: chr 19
allele count: 40
allele frequency: 3.394490741526502e-4
allele num: 117838
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3264+21C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2955+21C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3078+21C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.501+21C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.188+21C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2206+21C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.265+21C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2571+21C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1789+21C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16472
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19611
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4946
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-2110120-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110120
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110120
    reference: chr 19
allele count: 1
allele frequency: 8.41609156707625e-6
allele num: 118820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.265+15A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3264+15A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1789+15A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2955+15A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2206+15A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2571+15A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.501+15A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3078+15A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.188+15A>G
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17259
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-2110123-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110123
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110123
    reference: chr 19
allele count: 7
allele frequency: 5.87248322147651e-5
allele num: 119200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2955+12T>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.501+12T>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3078+12T>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3264+12T>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2206+12T>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2571+12T>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1789+12T>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.265+12T>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.188+12T>C
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21635
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17552
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

19-2110129-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110129
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110129
    reference: chr 19
allele count: 1
allele frequency: 8.353241893178742e-6
allele num: 119714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.501+6C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3264+6C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3078+6C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2206+6C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2955+6C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.265+6C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1789+6C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2571+6C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.188+6C>G
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
hgvs: c.3264+6C>G
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-2110136-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110136
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110136
    reference: chr 19
allele count: 2
allele frequency: 1.6654730776277e-5
allele num: 120086
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3263A>G
  hgvsp: ENSP00000347416.5:p.Lys1088Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2570A>G
  hgvsp: ENSP00000342321.6:p.Lys857Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.500A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2954A>G
  hgvsp: ENSP00000349398.4:p.Lys985Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.264A>G
  hgvsp: ENSP00000468449.1:p.Lys89Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1788A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.187A>G
  hgvsp: ENSP00000466267.1:p.Lys63Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3077A>G
  hgvsp: ENSP00000344055.4:p.Lys1026Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2205A>G
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys1088Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ

19-2110139-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110139
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110139
    reference: chr 19
allele count: 1
allele frequency: 8.32251406504877e-6
allele num: 120156
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3260C>A
  hgvsp: ENSP00000347416.5:p.Ala1087Asp
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.497C>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1785C>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2202C>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.184C>A
  hgvsp: ENSP00000466267.1:p.Ala62Asp
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.261C>A
  hgvsp: ENSP00000468449.1:p.Ala88Asp
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3074C>A
  hgvsp: ENSP00000344055.4:p.Ala1025Asp
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2951C>A
  hgvsp: ENSP00000349398.4:p.Ala984Asp
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2567C>A
  hgvsp: ENSP00000342321.6:p.Ala856Asp
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4909
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1087Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

19-2110143-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110143
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110143
    reference: chr 19
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3070A>G
  hgvsp: ENSP00000344055.4:p.Ile1024Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.257A>G
  hgvsp: ENSP00000468449.1:p.Ile87Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1781A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.493A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.180A>G
  hgvsp: ENSP00000466267.1:p.Ile61Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2947A>G
  hgvsp: ENSP00000349398.4:p.Ile983Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2198A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2563A>G
  hgvsp: ENSP00000342321.6:p.Ile855Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3256A>G
  hgvsp: ENSP00000347416.5:p.Ile1086Val
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile1086Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-2110152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110152
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110152
    reference: chr 19
allele count: 1
allele frequency: 8.30813199960121e-6
allele num: 120364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2189C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3061C>T
  hgvsp: ENST00000345016.5:c.3061C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1772C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.248C>T
  hgvsp: ENST00000586370.1:c.248C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.171C>T
  hgvsp: ENST00000589369.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.484C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2938C>T
  hgvsp: ENST00000356926.4:c.2938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3247C>T
  hgvsp: ENST00000355272.6:c.3247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2554C>T
  hgvsp: ENST00000350812.6:c.2554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35280
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1083Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

19-2110156-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110156
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110156
    reference: chr 19
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3057G>A
  hgvsp: ENST00000345016.5:c.3057G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3243G>A
  hgvsp: ENST00000355272.6:c.3243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2934G>A
  hgvsp: ENST00000356926.4:c.2934G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.244G>A
  hgvsp: ENST00000586370.1:c.244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2550G>A
  hgvsp: ENST00000350812.6:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1768G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.167G>A
  hgvsp: ENST00000589369.1:c.167G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.480G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2185G>A
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1081Gly
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-2110166-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110166
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110166
    reference: chr 19
allele count: 121
allele frequency: 1.004649618067087e-3
allele num: 120440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2175A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2540A>G
  hgvsp: ENSP00000342321.6:p.Lys847Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3047A>G
  hgvsp: ENSP00000344055.4:p.Lys1016Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.470A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2924A>G
  hgvsp: ENSP00000349398.4:p.Lys975Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3233A>G
  hgvsp: ENSP00000347416.5:p.Lys1078Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1758A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.157A>G
  hgvsp: ENSP00000466267.1:p.Lys53Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.234A>G
  hgvsp: ENSP00000468449.1:p.Lys79Arg
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys1078Arg
num of homozygotes: 3
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-2110171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110171
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110171
    reference: chr 19
allele count: 2
allele frequency: 1.660688189185599e-5
allele num: 120432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.152G>A
  hgvsp: ENST00000589369.1:c.152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2535G>A
  hgvsp: ENST00000350812.6:c.2535G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1753G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.465G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3042G>A
  hgvsp: ENST00000345016.5:c.3042G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3228G>A
  hgvsp: ENST00000355272.6:c.3228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2919G>A
  hgvsp: ENST00000356926.4:c.2919G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.229G>A
  hgvsp: ENST00000586370.1:c.229G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2170G>A
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22057
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1076Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

19-2110179-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110179
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110179
    reference: chr 19
allele count: 2
allele frequency: 1.660743348722888e-5
allele num: 120428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2162G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.144G>A
  hgvsp: ENSP00000466267.1:p.Val49Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3034G>A
  hgvsp: ENSP00000344055.4:p.Val1012Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3220G>A
  hgvsp: ENSP00000347416.5:p.Val1074Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2527G>A
  hgvsp: ENSP00000342321.6:p.Val843Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.457G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.221G>A
  hgvsp: ENSP00000468449.1:p.Val75Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2911G>A
  hgvsp: ENSP00000349398.4:p.Val971Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1745G>A
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val1074Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

19-2110180-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110180
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110180
    reference: chr 19
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1744C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.456C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3033C>T
  hgvsp: ENST00000345016.5:c.3033C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2910C>T
  hgvsp: ENST00000356926.4:c.2910C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.220C>T
  hgvsp: ENST00000586370.1:c.220C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3219C>T
  hgvsp: ENST00000355272.6:c.3219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.143C>T
  hgvsp: ENST00000589369.1:c.143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2526C>T
  hgvsp: ENST00000350812.6:c.2526C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2161C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile1073Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

19-2110185-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110185
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110185
    reference: chr 19
allele count: 20
allele frequency: 1.660826094899603e-4
allele num: 120422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2521A>C
  hgvsp: ENSP00000342321.6:p.Ser841Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2156A>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3028A>C
  hgvsp: ENSP00000344055.4:p.Ser1010Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.138A>C
  hgvsp: ENSP00000466267.1:p.Ser47Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1739A>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.215A>C
  hgvsp: ENSP00000468449.1:p.Ser73Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2905A>C
  hgvsp: ENSP00000349398.4:p.Ser969Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.451A>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3214A>C
  hgvsp: ENSP00000347416.5:p.Ser1072Arg
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9416
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1072Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-2110189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110189
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110189
    reference: chr 19
allele count: 2
allele frequency: 1.660908849322349e-5
allele num: 120416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2901C>T
  hgvsp: ENST00000356926.4:c.2901C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.211C>T
  hgvsp: ENST00000586370.1:c.211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3210C>T
  hgvsp: ENST00000355272.6:c.3210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.134C>T
  hgvsp: ENST00000589369.1:c.134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3024C>T
  hgvsp: ENST00000345016.5:c.3024C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2152C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2517C>T
  hgvsp: ENST00000350812.6:c.2517C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1735C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.447C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile1070Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/19-2110197-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110197
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110197
    reference: chr 19
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1727T>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2509T>G
  hgvsp: ENSP00000342321.6:p.Phe837Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.126T>G
  hgvsp: ENSP00000466267.1:p.Phe43Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3016T>G
  hgvsp: ENSP00000344055.4:p.Phe1006Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2893T>G
  hgvsp: ENSP00000349398.4:p.Phe965Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.203T>G
  hgvsp: ENSP00000468449.1:p.Phe69Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3202T>G
  hgvsp: ENSP00000347416.5:p.Phe1068Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.439T>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2144T>G
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe1068Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-2110198-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110198
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110198
    reference: chr 19
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3201G>A
  hgvsp: ENST00000355272.6:c.3201G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2892G>A
  hgvsp: ENST00000356926.4:c.2892G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.438G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.125G>A
  hgvsp: ENST00000589369.1:c.125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2508G>A
  hgvsp: ENST00000350812.6:c.2508G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3015G>A
  hgvsp: ENST00000345016.5:c.3015G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2143G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1726G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.202G>A
  hgvsp: ENST00000586370.1:c.202G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val1067Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

19-2110200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110200
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110200
    reference: chr 19
allele count: 1
allele frequency: 8.311032063961702e-6
allele num: 120322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3013G>A
  hgvsp: ENSP00000344055.4:p.Val1005Met
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2506G>A
  hgvsp: ENSP00000342321.6:p.Val836Met
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3199G>A
  hgvsp: ENSP00000347416.5:p.Val1067Met
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1724G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.200G>A
  hgvsp: ENSP00000468449.1:p.Val68Met
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2141G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.436G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.123G>A
  hgvsp: ENSP00000466267.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2890G>A
  hgvsp: ENSP00000349398.4:p.Val964Met
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4896
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val1067Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

19-2110201-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110201
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110201
    reference: chr 19
allele count: 18
allele frequency: 1.496085243612547e-4
allele num: 120314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.199T>C
  hgvsp: ENST00000586370.1:c.199T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3198T>C
  hgvsp: ENST00000355272.6:c.3198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1723T>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2889T>C
  hgvsp: ENST00000356926.4:c.2889T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.122T>C
  hgvsp: ENST00000589369.1:c.122T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.435T>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2140T>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2505T>C
  hgvsp: ENST00000350812.6:c.2505T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3012T>C
  hgvsp: ENST00000345016.5:c.3012T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21863
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19058
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr1066Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

19-2110205-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110205
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110205
    reference: chr 19
allele count: 4
allele frequency: 3.326901324106727e-5
allele num: 120232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3008A>G
  hgvsp: ENSP00000344055.4:p.Gln1003Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2501A>G
  hgvsp: ENSP00000342321.6:p.Gln834Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.118A>G
  hgvsp: ENSP00000466267.1:p.Gln40Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.431A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2885A>G
  hgvsp: ENSP00000349398.4:p.Gln962Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.195A>G
  hgvsp: ENSP00000468449.1:p.Gln66Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1719A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2136A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3194A>G
  hgvsp: ENSP00000347416.5:p.Gln1065Arg
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1065Arg
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-2110209-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110209
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110209
    reference: chr 19
allele count: 1
allele frequency: 8.318083513558476e-6
allele num: 120220
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3190G>T
  hgvsp: ENSP00000347416.5:p.Ala1064Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2881G>T
  hgvsp: ENSP00000349398.4:p.Ala961Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2497G>T
  hgvsp: ENSP00000342321.6:p.Ala833Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.114G>T
  hgvsp: ENSP00000466267.1:p.Ala39Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.191G>T
  hgvsp: ENSP00000468449.1:p.Ala65Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1715G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2132G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3004G>T
  hgvsp: ENSP00000344055.4:p.Ala1002Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.427G>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1064Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-2110212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110212
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110212
    reference: chr 19
allele count: 1
allele frequency: 8.322929671244279e-6
allele num: 120150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2129G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.188G>A
  hgvsp: ENSP00000468449.1:p.Glu64Lys
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3001G>A
  hgvsp: ENSP00000344055.4:p.Glu1001Lys
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.111G>A
  hgvsp: ENSP00000466267.1:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2878G>A
  hgvsp: ENSP00000349398.4:p.Glu960Lys
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2494G>A
  hgvsp: ENSP00000342321.6:p.Glu832Lys
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1712G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.424G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3187G>A
  hgvsp: ENSP00000347416.5:p.Glu1063Lys
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu1063Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

19-2110213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110213
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110213
    reference: chr 19
allele count: 1
allele frequency: 8.322375538873816e-6
allele num: 120158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.187C>T
  hgvsp: ENST00000586370.1:c.187C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.423C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.3000C>T
  hgvsp: ENST00000345016.5:c.3000C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3186C>T
  hgvsp: ENST00000355272.6:c.3186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2128C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2877C>T
  hgvsp: ENST00000356926.4:c.2877C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.110C>T
  hgvsp: ENST00000589369.1:c.110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2493C>T
  hgvsp: ENST00000350812.6:c.2493C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1711C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn1062Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

19-2110214-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110214
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110214
    reference: chr 19
allele count: 2
allele frequency: 1.664391997603276e-5
allele num: 120164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2999A>G
  hgvsp: ENSP00000344055.4:p.Asn1000Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.422A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2492A>G
  hgvsp: ENSP00000342321.6:p.Asn831Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1710A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2876A>G
  hgvsp: ENSP00000349398.4:p.Asn959Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2127A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.109A>G
  hgvsp: ENSP00000466267.1:p.Asn37Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3185A>G
  hgvsp: ENSP00000347416.5:p.Asn1062Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.186A>G
  hgvsp: ENSP00000468449.1:p.Asn63Ser
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn1062Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

19-2110221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110221
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110221
    reference: chr 19
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2992G>A
  hgvsp: ENSP00000344055.4:p.Val998Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2869G>A
  hgvsp: ENSP00000349398.4:p.Val957Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.179G>A
  hgvsp: ENSP00000468449.1:p.Val61Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.102G>A
  hgvsp: ENSP00000466267.1:p.Val35Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3178G>A
  hgvsp: ENSP00000347416.5:p.Val1060Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2120G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.415G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1703G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2485G>A
  hgvsp: ENSP00000342321.6:p.Val829Ile
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val1060Ile
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-2110222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110222
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110222
    reference: chr 19
allele count: 93
allele frequency: 7.753618355232441e-4
allele num: 119944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2868C>T
  hgvsp: ENST00000356926.4:c.2868C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2991C>T
  hgvsp: ENST00000345016.5:c.2991C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2119C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3177C>T
  hgvsp: ENST00000355272.6:c.3177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2484C>T
  hgvsp: ENST00000350812.6:c.2484C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.414C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.178C>T
  hgvsp: ENST00000586370.1:c.178C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1702C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.101C>T
  hgvsp: ENST00000589369.1:c.101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 21338
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18821
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
hgvs: c.3177C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-2110228-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110228
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110228
    reference: chr 19
allele count: 2
allele frequency: 1.670062460336017e-5
allele num: 119756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-5G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-5G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-5G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-5G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-5G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-5G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-5G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-5G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-5G>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 7.25e1
  variant carriers: 0
hgvs: c.3176-5G>T
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-2110228-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110228
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110228
    reference: chr 19
allele count: 2
allele frequency: 1.670062460336017e-5
allele num: 119756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-5G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-5G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-5G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-5G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-5G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-5G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-5G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-5G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-5G>A
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.25e1
  variant carriers: 0
hgvs: c.3176-5G>A
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-2110229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110229
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110229
    reference: chr 19
allele count: 1
allele frequency: 8.357011532675915e-6
allele num: 119660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-6C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-6C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-6C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-6C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-6C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-6C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-6C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-6C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-6C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
hgvs: c.3176-6C>T
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

19-2110233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110233
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110233
    reference: chr 19
allele count: 1
allele frequency: 8.359945827551038e-6
allele num: 119618
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-10C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-10C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-10C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-10C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-10C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-10C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-10C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-10C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-10C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

19-2110234-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110234
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110234
    reference: chr 19
allele count: 24
allele frequency: 2.007158866624293e-4
allele num: 119572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-11G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-11G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-11G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-11G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-11G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-11G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-11G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-11G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-11G>A
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20770
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18556
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

19-2110235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110235
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110235
    reference: chr 19
allele count: 3
allele frequency: 2.509452270217821e-5
allele num: 119548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-12C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-12C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-12C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-12C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-12C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-12C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-12C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-12C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-12C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9234
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-2110239-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110239
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110239
    reference: chr 19
allele count: 1
allele frequency: 8.370021929457456e-6
allele num: 119474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-16C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-16C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-16C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-16C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-16C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-16C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-16C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-16C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-16C>G
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

19-2110240-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110240
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110240
    reference: chr 19
allele count: 1
allele frequency: 8.373526259378349e-6
allele num: 119424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-17C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-17C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-17C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-17C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-17C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-17C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-17C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-17C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-17C>G
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4871
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-2110243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110243
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110243
    reference: chr 19
allele count: 1
allele frequency: 8.379560575843403e-6
allele num: 119338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-20C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-2110248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110248
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110248
    reference: chr 19
allele count: 1
allele frequency: 8.396587626788473e-6
allele num: 119096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-25C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-25C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-25C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-25C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-25C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-25C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-25C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-25C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-25C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17677
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7392
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-2110256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110256
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110256
    reference: chr 19
allele count: 2
allele frequency: 1.684607739087953e-5
allele num: 118722
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-33G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-33G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-33G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-33G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-33G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-33G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-33G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-33G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-33G>A
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15925
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/19-2110258-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110258
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110258
    reference: chr 19
allele count: 11
allele frequency: 9.276907247794626e-5
allele num: 118574
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-35G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-35G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-35G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-35G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-35G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-35G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-35G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-35G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-35G>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14884
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

19-2110258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110258
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110258
    reference: chr 19
allele count: 2
allele frequency: 1.686710408689932e-5
allele num: 118574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-35G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-35G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-35G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-35G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-35G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-35G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-35G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-35G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-35G>A
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15540
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/19-2110261-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110261
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110261
    reference: chr 19
allele count: 5
allele frequency: 4.227328835455452e-5
allele num: 118278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-38G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-38G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-38G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-38G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-38G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-38G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-38G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-38G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-38G>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14420
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-2110261-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110261
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110261
    reference: chr 19
allele count: 1
allele frequency: 8.454657670910904e-6
allele num: 118278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-38G>A
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22280
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

19-2110262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110262
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110262
    reference: chr 19
allele count: 9
allele frequency: 7.61472857723027e-5
allele num: 118192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-39C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-39C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-39C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-39C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-39C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-39C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-39C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-39C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-39C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14657
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14291
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21731
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

19-2110266-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110266
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110266
    reference: chr 19
allele count: 1
allele frequency: 8.485074753508579e-6
allele num: 117854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-43C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-43C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-43C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-43C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-43C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-43C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-43C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-43C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-43C>G
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

19-2110274-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110274
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110273
    reference: chr 19
allele count: 1
allele frequency: 8.518177791406862e-6
allele num: 117396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.177-52delC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1701-52delC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2483-52delC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2118-52delC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.413-52delC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2867-52delC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2990-52delC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.100-52delC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3176-52delC
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: TG
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

19-2110660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110660
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110660
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 18098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.176+46G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1700+46G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2989+46G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2117+46G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2482+46G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.412+46G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2866+46G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3175+46G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.99+46G>A
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 29183
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20907
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-2110661-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110661
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110661
    reference: chr 19
allele count: 4
allele frequency: 2.169432693350689e-4
allele num: 18438
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3175+45C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.412+45C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2866+45C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2117+45C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1700+45C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.176+45C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2482+45C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2989+45C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.99+45C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29373
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20694
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7485
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-2110665-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110665
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110663
    reference: chr 19
allele count: 9
allele frequency: 4.736842105263158e-4
allele num: 19000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2866+39_2866+40delTG
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3175+39_3175+40delTG
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1700+39_1700+40delTG
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2989+39_2989+40delTG
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.99+39_99+40delTG
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2482+39_2482+40delTG
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.412+39_412+40delTG
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2117+39_2117+40delTG
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.176+39_176+40delTG
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30224
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19660
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: CCA
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD

19-2110668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110668
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110668
    reference: chr 19
allele count: 1
allele frequency: 5.14615067929189e-5
allele num: 19432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.176+38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.412+38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3175+38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2866+38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1700+38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2117+38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2989+38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2482+38G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.99+38G>A
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24085
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15116
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

19-2110669-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110669
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110669
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 19612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1700+37T>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2482+37T>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2989+37T>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2866+37T>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.176+37T>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.99+37T>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3175+37T>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.412+37T>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2117+37T>A
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31507
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5460
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

19-2110671-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110671
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110671
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 19910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.99+35A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.412+35A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2482+35A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3175+35A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2117+35A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.176+35A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2989+35A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2866+35A>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1700+35A>G
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32080
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25960
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

19-2110678-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110678
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110678
    reference: chr 19
allele count: 1
allele frequency: 4.569130951293064e-5
allele num: 21886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2117+28C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2866+28C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.99+28C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2989+28C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.176+28C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3175+28C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.412+28C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1700+28C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2482+28C>G
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34257
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ

19-2110678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110678
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110678
    reference: chr 19
allele count: 1
allele frequency: 4.569130951293064e-5
allele num: 21886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2117+28C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.412+28C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2989+28C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2482+28C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2866+28C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1700+28C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3175+28C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.176+28C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.99+28C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-2110685-CGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110685
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110683
    reference: chr 19
allele count: 2
allele frequency: 8.202772537117546e-5
allele num: 24382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2482+19_2482+20delAC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.412+19_412+20delAC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2989+19_2989+20delAC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2117+19_2117+20delAC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.99+19_99+20delAC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1700+19_1700+20delAC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2866+19_2866+20delAC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.176+19_176+20delAC
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3175+19_3175+20delAC
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: CGT
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-2110686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110686
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110686
    reference: chr 19
allele count: 1
allele frequency: 3.951319740793425e-5
allele num: 25308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2117+20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2482+20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.412+20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.176+20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1700+20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.99+20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2989+20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3175+20C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2866+20C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36849
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

19-2110690-G-GTGGGGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110690
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110697
    reference: chr 19
allele count: 1
allele frequency: 3.598675687347057e-5
allele num: 27788
alternate allele: GTGGGGCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2482+9_2482+15dupTGCCCCA
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.99+9_99+15dupTGCCCCA
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2117+9_2117+15dupTGCCCCA
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.412+9_412+15dupTGCCCCA
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1700+9_1700+15dupTGCCCCA
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2866+9_2866+15dupTGCCCCA
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3175+9_3175+15dupTGCCCCA
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2989+9_2989+15dupTGCCCCA
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.176+9_176+15dupTGCCCCA
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7930
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

19-2110706-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110706
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110706
    reference: chr 19
allele count: 1
allele frequency: 2.551671344730799e-5
allele num: 39190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.99G>C
  hgvsp: ENSP00000466267.1:p.Gly34Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.176G>C
  hgvsp: ENSP00000468449.1:p.Gly60Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.412G>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1700G>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3175G>C
  hgvsp: ENSP00000347416.5:p.Gly1059Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2117G>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2482G>C
  hgvsp: ENSP00000342321.6:p.Gly828Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2989G>C
  hgvsp: ENSP00000344055.4:p.Gly997Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2866G>C
  hgvsp: ENSP00000349398.4:p.Gly956Arg
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly1059Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

19-2110723-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110723
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110723
    reference: chr 19
allele count: 6
allele frequency: 1.069556846946415e-4
allele num: 56098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.82C>G
  hgvsp: ENSP00000466267.1:p.Pro28Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2849C>G
  hgvsp: ENSP00000349398.4:p.Pro950Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2972C>G
  hgvsp: ENSP00000344055.4:p.Pro991Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2100C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2465C>G
  hgvsp: ENSP00000342321.6:p.Pro822Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3158C>G
  hgvsp: ENSP00000347416.5:p.Pro1053Arg
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.395C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1683C>G
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.159C>G
  hgvsp: ENSP00000468449.1:p.Pro54Arg
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15106
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1053Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

19-2110727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110727
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110727
    reference: chr 19
allele count: 6
allele frequency: 1.003713740841112e-4
allele num: 59778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2845G>A
  hgvsp: ENSP00000349398.4:p.Val949Met
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2461G>A
  hgvsp: ENSP00000342321.6:p.Val821Met
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2096G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.78G>A
  hgvsp: ENSP00000466267.1:p.Val27Met
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2968G>A
  hgvsp: ENSP00000344055.4:p.Val990Met
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.155G>A
  hgvsp: ENSP00000468449.1:p.Val53Met
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1679G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.391G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3154G>A
  hgvsp: ENSP00000347416.5:p.Val1052Met
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16319
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28122
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val1052Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

19-2110728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110728
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110728
    reference: chr 19
allele count: 2
allele frequency: 3.230287172529638e-5
allele num: 61914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1678C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2095C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2460C>T
  hgvsp: ENST00000350812.6:c.2460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2967C>T
  hgvsp: ENST00000345016.5:c.2967C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2844C>T
  hgvsp: ENST00000356926.4:c.2844C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.154C>T
  hgvsp: ENST00000586370.1:c.154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.77C>T
  hgvsp: ENST00000589369.1:c.77C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.390C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3153C>T
  hgvsp: ENST00000355272.6:c.3153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27192
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1051Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-2110733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110733
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110733
    reference: chr 19
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.149G>A
  hgvsp: ENSP00000468449.1:p.Val51Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3148G>A
  hgvsp: ENSP00000347416.5:p.Val1050Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2839G>A
  hgvsp: ENSP00000349398.4:p.Val947Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.385G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1673G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.72G>A
  hgvsp: ENSP00000466267.1:p.Val25Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2090G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2962G>A
  hgvsp: ENSP00000344055.4:p.Val988Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2455G>A
  hgvsp: ENSP00000342321.6:p.Val819Ile
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18901
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25286
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val1050Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

19-2110734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110734
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110734
    reference: chr 19
allele count: 2
allele frequency: 2.920560747663552e-5
allele num: 68480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2838C>T
  hgvsp: ENST00000356926.4:c.2838C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2454C>T
  hgvsp: ENST00000350812.6:c.2454C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2961C>T
  hgvsp: ENST00000345016.5:c.2961C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.148C>T
  hgvsp: ENST00000586370.1:c.148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3147C>T
  hgvsp: ENST00000355272.6:c.3147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2089C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1672C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.71C>T
  hgvsp: ENST00000589369.1:c.71C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.384C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24361
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24745
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19038
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1049Gly
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/19-2110735-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110735
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110735
    reference: chr 19
allele count: 2
allele frequency: 2.855511136493432e-5
allele num: 70040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.147G>T
  hgvsp: ENSP00000468449.1:p.Gly50Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2837G>T
  hgvsp: ENSP00000349398.4:p.Gly946Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2453G>T
  hgvsp: ENSP00000342321.6:p.Gly818Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.70G>T
  hgvsp: ENSP00000466267.1:p.Gly24Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2088G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2960G>T
  hgvsp: ENSP00000344055.4:p.Gly987Val
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.383G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1671G>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3146G>T
  hgvsp: ENSP00000347416.5:p.Gly1049Val
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20294
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly1049Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

19-2110735-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110735
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110735
    reference: chr 19
allele count: 3
allele frequency: 4.283266704740149e-5
allele num: 70040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2453G>C
  hgvsp: ENSP00000342321.6:p.Gly818Ala
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2837G>C
  hgvsp: ENSP00000349398.4:p.Gly946Ala
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.147G>C
  hgvsp: ENSP00000468449.1:p.Gly50Ala
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2960G>C
  hgvsp: ENSP00000344055.4:p.Gly987Ala
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3146G>C
  hgvsp: ENSP00000347416.5:p.Gly1049Ala
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.383G>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2088G>C
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.70G>C
  hgvsp: ENSP00000466267.1:p.Gly24Ala
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1671G>C
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1049Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-2110736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110736
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110736
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 71902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.69G>A
  hgvsp: ENSP00000466267.1:p.Gly24Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2959G>A
  hgvsp: ENSP00000344055.4:p.Gly987Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2452G>A
  hgvsp: ENSP00000342321.6:p.Gly818Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2836G>A
  hgvsp: ENSP00000349398.4:p.Gly946Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3145G>A
  hgvsp: ENSP00000347416.5:p.Gly1049Ser
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.382G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1670G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2087G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.146G>A
  hgvsp: ENSP00000468449.1:p.Gly50Ser
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23041
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1049Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-2110739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110739
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110739
    reference: chr 19
allele count: 20
allele frequency: 2.661769011685166e-4
allele num: 75138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2833G>A
  hgvsp: ENSP00000349398.4:p.Asp945Asn
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.143G>A
  hgvsp: ENSP00000468449.1:p.Asp49Asn
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2449G>A
  hgvsp: ENSP00000342321.6:p.Asp817Asn
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2956G>A
  hgvsp: ENSP00000344055.4:p.Asp986Asn
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3142G>A
  hgvsp: ENSP00000347416.5:p.Asp1048Asn
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.66G>A
  hgvsp: ENSP00000466267.1:p.Asp23Asn
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.379G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1667G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2084G>A
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 23087
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21494
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Asp1048Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

19-2110740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110740
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110740
    reference: chr 19
allele count: 4
allele frequency: 5.187798298402158e-5
allele num: 77104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2083C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.65C>T
  hgvsp: ENST00000589369.1:c.65C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3141C>T
  hgvsp: ENST00000355272.6:c.3141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2832C>T
  hgvsp: ENST00000356926.4:c.2832C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1666C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2448C>T
  hgvsp: ENST00000350812.6:c.2448C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2955C>T
  hgvsp: ENST00000345016.5:c.2955C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.378C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.142C>T
  hgvsp: ENST00000586370.1:c.142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23357
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His1047His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-2110745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110745
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110745
    reference: chr 19
allele count: 4
allele frequency: 4.821135859608524e-5
allele num: 82968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1661G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.137G>A
  hgvsp: ENSP00000468449.1:p.Val47Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2078G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2443G>A
  hgvsp: ENSP00000342321.6:p.Val815Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.60G>A
  hgvsp: ENSP00000466267.1:p.Val21Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.373G>A
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3136G>A
  hgvsp: ENSP00000347416.5:p.Val1046Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2827G>A
  hgvsp: ENSP00000349398.4:p.Val943Ile
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2950G>A
  hgvsp: ENSP00000344055.4:p.Val984Ile
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26764
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val1046Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-2110746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110746
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110746
    reference: chr 19
allele count: 30527
allele frequency: 3.110366189146782e-1
allele num: 98146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2949C>T
  hgvsp: ENST00000345016.5:c.2949C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.59C>T
  hgvsp: ENST00000589369.1:c.59C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2826C>T
  hgvsp: ENST00000356926.4:c.2826C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3135C>T
  hgvsp: ENST00000355272.6:c.3135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.136C>T
  hgvsp: ENST00000586370.1:c.136C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2442C>T
  hgvsp: ENST00000350812.6:c.2442C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2077C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.372C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1660C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 325
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 2.75e1
  variant carriers: 4297
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 20896
  bin: 2.25e1
  variant carriers: 5988
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 461
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 3.25e1
  variant carriers: 2507
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 801
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 7.5e0
  variant carriers: 838
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.5e0
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 1.25e1
  variant carriers: 3358
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.75e1
  variant carriers: 1356
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 582
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 1.75e1
  variant carriers: 5838
genotype quality: GenotypeQuality
  all individuals: 9548
  bin: 2.25e1
  variant carriers: 156
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 5.75e1
  variant carriers: 296
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 4.75e1
  variant carriers: 416
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.25e1
  variant carriers: 387
hgvs: p.Ser1045Ser
num of homozygotes: 4335
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

19-2110747-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110747
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110747
    reference: chr 19
allele count: 1
allele frequency: 9.988213907589045e-6
allele num: 100118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2441C>T
  hgvsp: ENSP00000342321.6:p.Ser814Phe
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2948C>T
  hgvsp: ENSP00000344055.4:p.Ser983Phe
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.371C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3134C>T
  hgvsp: ENSP00000347416.5:p.Ser1045Phe
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1659C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.58C>T
  hgvsp: ENSP00000466267.1:p.Ser20Phe
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2825C>T
  hgvsp: ENSP00000349398.4:p.Ser942Phe
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.135C>T
  hgvsp: ENSP00000468449.1:p.Ser46Phe
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2076C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1045Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

19-2110750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2110750
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 2110750
    reference: chr 19
allele count: 1
allele frequency: 9.860377060818805e-6
allele num: 101416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000344055
  ensembl transcript: ENST00000345016
  gene symbol: AP3D1
  hgvsc: ENST00000345016.5:c.2945C>T
  hgvsp: ENSP00000344055.4:p.Ser982Phe
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000589223
  gene symbol: AP3D1
  hgvsc: ENST00000589223.1:n.1656C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000342321
  ensembl transcript: ENST00000350812
  gene symbol: AP3D1
  hgvsc: ENST00000350812.6:c.2438C>T
  hgvsp: ENSP00000342321.6:p.Ser813Phe
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000585652
  gene symbol: AP3D1
  hgvsc: ENST00000585652.1:n.2073C>T
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000347416
  ensembl transcript: ENST00000355272
  gene symbol: AP3D1
  hgvsc: ENST00000355272.6:c.3131C>T
  hgvsp: ENSP00000347416.5:p.Ser1044Phe
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000466267
  ensembl transcript: ENST00000589369
  gene symbol: AP3D1
  hgvsc: ENST00000589369.1:c.55C>T
  hgvsp: ENSP00000466267.1:p.Ser19Phe
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000349398
  ensembl transcript: ENST00000356926
  gene symbol: AP3D1
  hgvsc: ENST00000356926.4:c.2822C>T
  hgvsp: ENSP00000349398.4:p.Ser941Phe
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065000
  ensembl protein: ENSP00000468449
  ensembl transcript: ENST00000586370
  gene symbol: AP3D1
  hgvsc: ENST00000586370.1:c.132C>T
  hgvsp: ENSP00000468449.1:p.Ser45Phe
  variant of: http://identifiers.org/hgnc/568
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065000
  ensembl transcript: ENST00000591650
  gene symbol: AP3D1
  hgvsc: ENST00000591650.1:n.368C>T
  variant of: http://identifiers.org/hgnc/568
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1044Phe
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1816
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2770
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7406
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3378
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

African
type: Population
allele count: 36
allele frequency: 3.757044458359424e-3
allele num: 9582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536995481233285e-5
allele num: 65062
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.777461784571632e-4
allele num: 11252
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.650302e6

FS
type: SiteQuality
SIO_000300: 6.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

QD
type: SiteQuality
SIO_000300: 1.508e1

GenotypeQuality
all individuals: 466
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4915
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2792
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7744
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.188495364868077e-4
allele num: 8414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.675944e6

FS
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.19e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
all individuals: 178
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4919
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7842
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33015
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.064250311673306e-4
allele num: 65774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.227e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.684687e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4911
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33900
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7936
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66068
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

DP
type: SiteQuality
SIO_000300: 1.699052e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.061e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.449e1

GenotypeQuality
all individuals: 1582
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4911
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2843
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2434
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66282
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.050440844781628e-4
allele num: 9754
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.707479e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e0

QD
type: SiteQuality
SIO_000300: 1.531e1

FS
type: SiteQuality
SIO_000300: 7.655e0

VQSLOD
type: SiteQuality
SIO_000300: -7.328e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34921
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3425
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507567991316408e-5
allele num: 66332
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.373e1

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.861e0

FS
type: SiteQuality
SIO_000300: 3.413e0

DP
type: SiteQuality
SIO_000300: 1.709737e6

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4909
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2852
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35159
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.451e1

FS
type: SiteQuality
SIO_000300: 4.276e0

DP
type: SiteQuality
SIO_000300: 1.711953e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

GenotypeQuality
all individuals: 279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3433
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4909
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.715206e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 1.479e0

MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

QD
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SIO_000300: 1.549e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.933e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.04e-1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504347564461293e-5
allele num: 66474
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQ
type: SiteQuality
SIO_000300: 5.711e1

MQRankSum
type: SiteQuality
SIO_000300: 9.89e-1

InbreedingCoeff
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SIO_000300: 1.2e-3

QD
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VQSLOD
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SIO_000300: -3.297e-1

DP
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SIO_000300: 1.716411e6

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.894e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

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

Latino
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allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

South Asian
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allele count: 118
allele frequency: 7.14891554586211e-3
allele num: 16506
num of homozygotes: 3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
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SIO_000300: 2.85e-2

QD
type: SiteQuality
SIO_000300: 1.226e1

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

FS
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 1.723942e6

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008061605101673e-5
allele num: 66488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 4.988e0

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
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SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

DP
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SIO_000300: 1.71947e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00833308263891e-5
allele num: 66482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.718867e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.009e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.785e0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66484
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South Asian
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East Asian
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allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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MQ
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QD
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 16
allele frequency: 2.406883687345809e-4
allele num: 66476
num of homozygotes: 0

African
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Latino
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allele frequency: 8.658008658008658e-5
allele num: 11550
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East Asian
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European (Finnish)
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allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
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Other
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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FS
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.008423586040914e-5
allele num: 66480
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Other
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South Asian
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East Asian
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Latino
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

VQSLOD
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SIO_000300: 3.63e-1

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

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

South Asian
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Other
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African
type: Population
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East Asian
type: Population
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MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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DP
type: SiteQuality
SIO_000300: 1.717486e6

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4895
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.729e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 2.173e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.468e0

QD
type: SiteQuality
SIO_000300: 9.0e0

DP
type: SiteQuality
SIO_000300: 1.717334e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8062
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66410
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.716982e6

VQSLOD
type: SiteQuality
SIO_000300: -1.329e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: -1.424e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.558e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
all individuals: 4908
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 341
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.517664066500015e-5
allele num: 66406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.434426229508197e-3
allele num: 9760
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.18e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 1.71755e6

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

GenotypeQuality
all individuals: 4895
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 8.75e1
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: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.028999487535044e-5
allele num: 66346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.341e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
type: SiteQuality
SIO_000300: 1.07e1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

DP
type: SiteQuality
SIO_000300: 1.715375e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 30
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.208e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.974e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

DP
type: SiteQuality
SIO_000300: 1.714857e6

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 1172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
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variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.713166e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.94e-1

FS
type: SiteQuality
SIO_000300: 4.784e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.371e1

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3403
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.847e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.142e0

FS
type: SiteQuality
SIO_000300: 2.068e0

QD
type: SiteQuality
SIO_000300: 1.576e1

DP
type: SiteQuality
SIO_000300: 1.713102e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1172
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015499668295036e-5
allele num: 66324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.22e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.712897e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.145e0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 151
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GenotypeQuality
all individuals: 1579
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 4891
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.83e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

DP
type: SiteQuality
SIO_000300: 1.708297e6

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 93

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021604471974619e-5
allele num: 66190
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

African
type: Population
allele count: 91
allele frequency: 9.385313531353136e-3
allele num: 9696
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 1.309e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

DP
type: SiteQuality
SIO_000300: 1.70939e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.452e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

QD
type: SiteQuality
SIO_000300: 1.191e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 888
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GenotypeQuality
all individuals: 4877
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027367401307823e-5
allele num: 66064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 4.91e-1

DP
type: SiteQuality
SIO_000300: 1.70144e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

GenotypeQuality
all individuals: 4877
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2810
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GenotypeQuality
all individuals: 7869
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027367401307823e-5
allele num: 66064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.70144e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.697925e6

VQSLOD
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 8.141e0

QD
type: SiteQuality
SIO_000300: 1.114e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65990
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.891e0

FS
type: SiteQuality
SIO_000300: 3.998e0

DP
type: SiteQuality
SIO_000300: 1.694049e6

VQSLOD
type: SiteQuality
SIO_000300: 3.09e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 389
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.437538086532602e-3
allele num: 6564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.098077273002972e-5
allele num: 65948
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.591e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

QD
type: SiteQuality
SIO_000300: 1.224e1

DP
type: SiteQuality
SIO_000300: 1.694593e6

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1168
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GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.549590536851683e-5
allele num: 65940
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 3.938e0

DP
type: SiteQuality
SIO_000300: 1.691638e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.025e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
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GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 460
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1408
bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7671
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variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4870
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517174414370676e-5
allele num: 65912
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

QD
type: SiteQuality
SIO_000300: 2.729e1

FS
type: SiteQuality
SIO_000300: 3.881e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.432e0

DP
type: SiteQuality
SIO_000300: 1.687015e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518003521768171e-5
allele num: 65876
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.27e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 7.907e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 1.685705e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519295047098146e-5
allele num: 65820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 8.300000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.09e-1

DP
type: SiteQuality
SIO_000300: 1.679341e6

GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.043187982474442e-4
allele num: 9586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

DP
type: SiteQuality
SIO_000300: 1.660089e6

QD
type: SiteQuality
SIO_000300: 1.033e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.089392278650591e-5
allele num: 16422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527977263698316e-5
allele num: 65446
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

QD
type: SiteQuality
SIO_000300: 1.169e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 3.932e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.611847e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.624671916010499e-4
allele num: 11430
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.121824303642486e-5
allele num: 65340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.435756911460236e-4
allele num: 16422
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.552e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.361e1

DP
type: SiteQuality
SIO_000300: 1.598682e6

FS
type: SiteQuality
SIO_000300: 1.255e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 2
allele frequency: 2.365744026496333e-4
allele num: 8454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65340
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.361e1

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.255e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.765778401122019e-5
allele num: 11408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.137605106487449e-5
allele num: 65172
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.586691e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

BaseQRankSum
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SIO_000300: 2.12e0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534401276621862e-5
allele num: 65172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.395e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.586691e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.228501228501228e-4
allele num: 65120
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele num: 11396
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64648
num of homozygotes: 0

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

East Asian
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allele num: 8362
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: 2.96e-1

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 434
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.92735e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.64e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: -9.736e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 1.942879347192539e-4
allele num: 10294
num of homozygotes: 0

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

African
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allele frequency: 5.668934240362812e-4
allele num: 1764
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East Asian
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allele frequency: 9.708737864077669e-4
allele num: 1030
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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FS
type: SiteQuality
SIO_000300: 1.789e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.49e-2

MQ
type: SiteQuality
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BaseQRankSum
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QD
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SIO_000300: 9.27e0

GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 10604
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European (Finnish)
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African
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Latino
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allele num: 1194
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VQSLOD
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 9.255831173639393e-5
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Other
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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South Asian
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African
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.537e0

DP
type: SiteQuality
SIO_000300: 4.28743e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.894e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-2

QD
type: SiteQuality
SIO_000300: 7.38e0

GenotypeQuality
all individuals: 4043
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11950
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.552870090634441e-4
allele num: 1324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.57438e5

QD
type: SiteQuality
SIO_000300: 1.067e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.36e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.948e-1

FS
type: SiteQuality
SIO_000300: 8.603e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.985044865403788e-4
allele num: 2006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 8.603e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.948e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 4.57438e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.505117399157134e-4
allele num: 13288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.472e1

DP
type: SiteQuality
SIO_000300: 4.94536e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 1.512e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.32e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

GenotypeQuality
all individuals: 88
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 714
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5176
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.337135614702154e-4
allele num: 1578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.89e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

DP
type: SiteQuality
SIO_000300: 5.07437e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.156e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.093e-1

QD
type: SiteQuality
SIO_000300: 5.62e0

GenotypeQuality
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.612881893929374e-5
allele num: 15122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2410
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.912e1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

QD
type: SiteQuality
SIO_000300: 1.085e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.099e0

DP
type: SiteQuality
SIO_000300: 5.3248e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 642
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21162
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.369272237196766e-4
allele num: 2968
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.473e0

QD
type: SiteQuality
SIO_000300: 1.455e1

DP
type: SiteQuality
SIO_000300: 6.30563e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -5.658e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 6

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

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.949064449064449e-4
allele num: 30784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1910
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.665e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
SIO_000300: 1.333e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

DP
type: SiteQuality
SIO_000300: 7.71437e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 374
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.173913043478261e-3
allele num: 460
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 1.187648456057007e-3
allele num: 4210
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.26e0

VQSLOD
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.443e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

FS
type: SiteQuality
SIO_000300: 4.211e0

DP
type: SiteQuality
SIO_000300: 8.0659e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 899
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GenotypeQuality
all individuals: 251
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GenotypeQuality
all individuals: 1399
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GenotypeQuality
all individuals: 1889
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2204
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.886792452830189e-4
allele num: 5300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.932551319648094e-5
allele num: 34100
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.062e0

VQSLOD
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ClippingRankSum
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SIO_000300: -3.22e-1

MQRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

QD
type: SiteQuality
SIO_000300: 7.23e0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.721236529879177e-5
allele num: 36748
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 5854
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4800
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2412
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5176
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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ClippingRankSum
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SIO_000300: -6.5e-1

ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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SIO_000300: 5.934e1

FS
type: SiteQuality
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MQRankSum
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.281504172388296e-5
allele num: 37868
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5302
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2492
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -7.51e-1

FS
type: SiteQuality
SIO_000300: 4.401e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

DP
type: SiteQuality
SIO_000300: 8.83606e5

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 38738
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.741250217656277e-4
allele num: 11486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5084
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

FS
type: SiteQuality
SIO_000300: 2.288e0

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.097e1

DP
type: SiteQuality
SIO_000300: 8.95053e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38738
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.611875326484416e-4
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 2.288e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

DP
type: SiteQuality
SIO_000300: 8.95053e5

QD
type: SiteQuality
SIO_000300: 1.097e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
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Latino
type: Population
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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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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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European (Finnish)
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -1.14e-1

ClippingRankSum
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SIO_000300: 2.54e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 22

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 2.42382271468144e-3
allele num: 2888
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European (Non-Finnish)
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allele frequency: 2.639662123248224e-4
allele num: 41672
num of homozygotes: 0

African
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Latino
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allele frequency: 1.466275659824047e-4
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South Asian
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allele num: 11930
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Other
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DP
type: SiteQuality
SIO_000300: 9.45081e5

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
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MQRankSum
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ClippingRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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Latino
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Other
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African
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East Asian
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South Asian
type: Population
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allele frequency: 1.65371258475277e-4
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European (Non-Finnish)
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allele frequency: 2.336776183577137e-5
allele num: 42794
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12646
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.27653997378768e-4
allele num: 6104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.569365976145637e-4
allele num: 6372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.168256721595837e-5
allele num: 46120
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 4.386e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.299e0

DP
type: SiteQuality
SIO_000300: 1.01924e6

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

QD
type: SiteQuality
SIO_000300: 1.062e1

GenotypeQuality
all individuals: 695
bin: 2.5e0
variant carriers: 45

GenotypeQuality
all individuals: 324
bin: 9.25e1
variant carriers: 302

GenotypeQuality
all individuals: 291
bin: 8.75e1
variant carriers: 264

GenotypeQuality
all individuals: 293
bin: 1.25e1
variant carriers: 92

GenotypeQuality
all individuals: 448
bin: 7.25e1
variant carriers: 275

GenotypeQuality
all individuals: 1463
bin: 3.25e1
variant carriers: 253

GenotypeQuality
all individuals: 394
bin: 1.75e1
variant carriers: 114

GenotypeQuality
all individuals: 1279
bin: 2.75e1
variant carriers: 131

GenotypeQuality
all individuals: 16282
bin: 6.25e1
variant carriers: 432

GenotypeQuality
all individuals: 677
bin: 7.5e0
variant carriers: 96

GenotypeQuality
all individuals: 929
bin: 5.25e1
variant carriers: 471

GenotypeQuality
all individuals: 656
bin: 4.25e1
variant carriers: 243

GenotypeQuality
all individuals: 1139
bin: 3.75e1
variant carriers: 299

GenotypeQuality
all individuals: 22216
bin: 9.75e1
variant carriers: 22132

GenotypeQuality
all individuals: 1388
bin: 6.75e1
variant carriers: 474

GenotypeQuality
all individuals: 541
bin: 7.75e1
variant carriers: 415

East Asian
type: Population
allele count: 3257
allele frequency: 4.318483160965261e-1
allele num: 7542
num of homozygotes: 624

Latino
type: Population
allele count: 2116
allele frequency: 2.353202846975089e-1
allele num: 8992
num of homozygotes: 204

European (Finnish)
type: Population
allele count: 1532
allele frequency: 3.431899641577061e-1
allele num: 4464
num of homozygotes: 188

South Asian
type: Population
allele count: 4957
allele frequency: 3.424761641564184e-1
allele num: 14474
num of homozygotes: 806

Other
type: Population
allele count: 222
allele frequency: 3.135593220338983e-1
allele num: 708
num of homozygotes: 30

European (Non-Finnish)
type: Population
allele count: 14093
allele frequency: 2.633614890118104e-1
allele num: 53512
num of homozygotes: 1484

African
type: Population
allele count: 4350
allele frequency: 5.145493257629524e-1
allele num: 8454
num of homozygotes: 999

VQSLOD
type: SiteQuality
SIO_000300: 6.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.04e-2

QD
type: SiteQuality
SIO_000300: 1.751e1

DP
type: SiteQuality
SIO_000300: 1.27074e6

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10546
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 752
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27393
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54670
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.867188572998215e-5
allele num: 14562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4640
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.617e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.187833e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.669e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

QD
type: SiteQuality
SIO_000300: 1.391e1