17-423178-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 423178
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 423178
    reference: chr 17
allele count: 1
allele frequency: 4.745634016704632e-5
allele num: 21072
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2224-8C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.210-8C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1994-8C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-2299C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.291-8C>T
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 6.75e1
  variant carriers: 0
hgvs: c.2224-8C>T
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

17-423204-GGAAAACTACCACCACGGGAGGAGACAGGAGCGGGCCCTCAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 423204
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 423163
    reference: chr 17
allele count: 1
allele frequency: 4.778744146038421e-5
allele num: 20926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: GGAAAACTACCACCACGGGAGGAGACAGGAGCGGGCCCTCAA
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-423219-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 423219
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 423219
    reference: chr 17
allele count: 5
allele frequency: 2.412894508252099e-4
allele num: 20722
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2224-49G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.291-49G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1994-49G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-2340G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.210-49G>C
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-424799-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424799
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424799
    reference: chr 17
allele count: 2
allele frequency: 1.217730150998539e-4
allele num: 16424
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2223+42T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-3920T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.209+42T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1993+42T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.290+42T>G
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

17-424859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424859
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424859
    reference: chr 17
allele count: 1
allele frequency: 4.549176599035575e-5
allele num: 21982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.272G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2205G>A
  hgvsp: ENST00000437048.2:c.2205G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-3980G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1975G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.191G>A
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg735Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-424860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424860
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424860
    reference: chr 17
allele count: 3
allele frequency: 1.361038018328645e-4
allele num: 22042
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2204G>A
  hgvsp: ENSP00000401435.2:p.Arg735Gln
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-3981G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1974G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.190G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.271G>A
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg735Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-424880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424880
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424880
    reference: chr 17
allele count: 563
allele frequency: 2.508242003029493e-2
allele num: 22446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.251C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-4001C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.170C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2184C>T
  hgvsp: ENST00000437048.2:c.2184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1954C>T
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile728Ile
num of homozygotes: 7
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

17-424880-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424880
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424880
    reference: chr 17
allele count: 1
allele frequency: 4.455136772698922e-5
allele num: 22446
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2184C>A
  hgvsp: ENST00000437048.2:c.2184C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.251C>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1954C>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.170C>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-4001C>A
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile728Ile
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

17-424886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424886
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424886
    reference: chr 17
allele count: 8
allele frequency: 3.57685773048377e-4
allele num: 22366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.164C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1948C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.245C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2178C>T
  hgvsp: ENST00000437048.2:c.2178C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-4007C>T
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr726Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

17-424897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424897
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424897
    reference: chr 17
allele count: 1
allele frequency: 4.510193036261952e-5
allele num: 22172
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2167G>A
  hgvsp: ENSP00000401435.2:p.Ala723Thr
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1937G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.153G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.234G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-4018G>A
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala723Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-424898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424898
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424898
    reference: chr 17
allele count: 1
allele frequency: 4.509786236132407e-5
allele num: 22174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1936C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2166C>T
  hgvsp: ENST00000437048.2:c.2166C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.233C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.152C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-4019C>T
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro722Pro
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

17-424915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424915
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424915
    reference: chr 17
allele count: 1
allele frequency: 4.551661356395084e-5
allele num: 21970
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2149G>A
  hgvsp: ENSP00000401435.2:p.Val717Met
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.216G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.135G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1919G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-4036G>A
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val717Met
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

17-424934-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424934
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424934
    reference: chr 17
allele count: 87
allele frequency: 3.991924382857667e-3
allele num: 21794
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2130C>G
  hgvsp: ENST00000437048.2:c.2130C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.116C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.197C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-4055C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1900C>G
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 84
hgvs: p.Leu710Leu
num of homozygotes: 2
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-424940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424940
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424940
    reference: chr 17
allele count: 1
allele frequency: 4.612971676353907e-5
allele num: 21678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-4061C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.110C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.191C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1894C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2124C>T
  hgvsp: ENST00000437048.2:c.2124C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu708Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-424958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424958
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424958
    reference: chr 17
allele count: 3
allele frequency: 1.425042751282538e-4
allele num: 21052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.173G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-4079G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2106G>A
  hgvsp: ENST00000437048.2:c.2106G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.92G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1876G>A
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser702Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

17-424964-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424964
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424964
    reference: chr 17
allele count: 1
allele frequency: 4.809542131589073e-5
allele num: 20792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-4085C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.167C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2100C>T
  hgvsp: ENST00000437048.2:c.2100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.86C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1870C>T
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr700Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-424996-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 424996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 424996
    reference: chr 17
allele count: 1
allele frequency: 5.180273518441773e-5
allele num: 19304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.153-18C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.72-18C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-4117C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2086-18C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1856-18C>T
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-425004-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 425004
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 425004
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 18788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1856-26G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2086-26G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.153-26G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-4125G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.72-26G>A
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/17-425018-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 425018
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 425018
    reference: chr 17
allele count: 48
allele frequency: 2.732862673650649e-3
allele num: 17564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1856-40G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.153-40G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2086-40G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000541903
  gene symbol: VPS53
  hgvsc: ENST00000541903.2:n.72-40G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-4139G>T
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 2
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-436018-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436018
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436018
    reference: chr 17
allele count: 2
allele frequency: 1.894944288637914e-5
allele num: 105544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1596T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+64T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+64T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15139T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.*49T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.*49T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7611A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.*49T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+64T>C
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14358
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-436019-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436019
    reference: chr 17
allele count: 1
allele frequency: 9.488026111047858e-6
allele num: 105396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.*48C>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+63C>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1595C>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15140C>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+63C>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.*48C>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.*48C>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+63C>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7610G>T
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15848
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6987
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS

http://identifiers.org/exac.variant/17-436021-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436021
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436021
    reference: chr 17
allele count: 3
allele frequency: 2.836450277026644e-5
allele num: 105766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.*46T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.*46T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.*46T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+61T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7608A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1593T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15142T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+61T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+61T>G
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15803
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11494
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6573
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-436025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436025
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436025
    reference: chr 17
allele count: 1
allele frequency: 9.456801331517628e-6
allele num: 105744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+57C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7604G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1589C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+57C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+57C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.*42C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15146C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.*42C>T
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-436027-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436027
    reference: chr 17
allele count: 1
allele frequency: 9.447688150709521e-6
allele num: 105846
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+55C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15148C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+55C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.*40C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.*40C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1587C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.*40C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7602G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+55C>G
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6941
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

17-436027-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436028
    reference: chr 17
allele count: 1
allele frequency: 9.447688150709521e-6
allele num: 105846
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+54dupG
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+54dupG
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.*39dupG
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1586dupG
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.*39dupG
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+54dupG
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15149dupG
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7601dupC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.*39dupG
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14868
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6383
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-436028-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436028
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436029
    reference: chr 17
allele count: 3
allele frequency: 2.831738120858583e-5
allele num: 105942
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7599dupT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.*38dupA
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.*38dupA
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15150dupA
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1585dupA
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+53dupA
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.*38dupA
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+53dupA
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+53dupA
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14510
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5143
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-436031-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436031
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436031
    reference: chr 17
allele count: 1
allele frequency: 9.406452826639075e-6
allele num: 106310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15152C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1583C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.*36C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+51C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.*36C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+51C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.*36C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+51C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7598G>C
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5143
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-436040-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436040
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436040
    reference: chr 17
allele count: 1
allele frequency: 9.247956201679429e-6
allele num: 108132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+42G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1574G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.*27G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+42G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7589C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.*27G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15161G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+42G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.*27G>T
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28609
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/17-436042-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436042
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436042
    reference: chr 17
allele count: 2
allele frequency: 1.836581020771731e-5
allele num: 108898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1572T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15163T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7587A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.*25T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+40T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.*25T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.*25T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+40T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+40T>G
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

17-436043-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436043
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436043
    reference: chr 17
allele count: 1
allele frequency: 9.153988392742718e-6
allele num: 109242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.*24T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1571T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.*24T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7586A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.*24T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+39T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+39T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+39T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15164T>C
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31258
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS

17-436052-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436052
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436052
    reference: chr 17
allele count: 1
allele frequency: 8.893473968801694e-6
allele num: 112442
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7577G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+30C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+30C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15173C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+30C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.*15C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1562C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.*15C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.*15C>G
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35178
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

17-436062-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436062
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436062
    reference: chr 17
allele count: 2
allele frequency: 1.738253750282466e-5
allele num: 115058
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+20A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.*5A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1552A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+20A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+20A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.*5A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7567T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.*5A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15183A>G
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37136
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-436070-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436070
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436070
    reference: chr 17
allele count: 1
allele frequency: 8.597121683660311e-6
allele num: 116318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+12G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2097G>T
  hgvsp: ENST00000571805.1:c.2097G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1503G>T
  hgvsp: ENST00000446250.2:c.1503G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1544G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*256G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15191G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1266G>T
  hgvsp: ENST00000401468.3:c.1266G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.2010G>T
  hgvsp: ENST00000291074.5:c.2010G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+12G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+12G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7559C>A
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr422Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

17-436070-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436070
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436070
    reference: chr 17
allele count: 1
allele frequency: 8.597121683660311e-6
allele num: 116318
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7559C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1266G>A
  hgvsp: ENST00000401468.3:c.1266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1544G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*256G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2097G>A
  hgvsp: ENST00000571805.1:c.2097G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+12G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15191G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+12G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.2010G>A
  hgvsp: ENST00000291074.5:c.2010G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1503G>A
  hgvsp: ENST00000446250.2:c.1503G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+12G>A
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr422Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-436071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436071
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436071
    reference: chr 17
allele count: 7
allele frequency: 6.008996325927961e-5
allele num: 116492
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1265C>T
  hgvsp: ENSP00000384294.3:p.Thr422Met
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1502C>T
  hgvsp: ENSP00000394386.2:p.Thr501Met
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+11C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.2009C>T
  hgvsp: ENSP00000291074.5:p.Thr670Met
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7558G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15192C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*255C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2096C>T
  hgvsp: ENSP00000459312.1:p.Thr699Met
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+11C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+11C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1543C>T
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10207
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr422Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-436075-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436075
    reference: chr 17
allele count: 1
allele frequency: 8.54642417612471e-6
allele num: 117008
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7554A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2092T>C
  hgvsp: ENSP00000459312.1:p.Trp698Arg
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1261T>C
  hgvsp: ENSP00000384294.3:p.Trp421Arg
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152+7T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*251T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1498T>C
  hgvsp: ENSP00000394386.2:p.Trp500Arg
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1539T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855+7T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.2005T>C
  hgvsp: ENSP00000291074.5:p.Trp669Arg
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15196T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085+7T>C
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp421Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-436082-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436082
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436082
    reference: chr 17
allele count: 1
allele frequency: 8.505137102810097e-6
allele num: 117576
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1491G>C
  hgvsp: ENSP00000394386.2:p.Gln497His
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*244G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7547C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2085G>C
  hgvsp: ENSP00000459312.1:p.Gln695His
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1855G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1254G>C
  hgvsp: ENSP00000384294.3:p.Gln418His
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1998G>C
  hgvsp: ENSP00000291074.5:p.Gln666His
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1532G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.152G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15203G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2085G>C
  hgvsp: ENSP00000401435.2:p.Gln695His
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln695His
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-436098-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436098
    reference: chr 17
allele count: 2
allele frequency: 1.692763436309776e-5
allele num: 118150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1839T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.136T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1982T>C
  hgvsp: ENSP00000291074.5:p.Met661Thr
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*228T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1475T>C
  hgvsp: ENSP00000394386.2:p.Met492Thr
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2069T>C
  hgvsp: ENSP00000459312.1:p.Met690Thr
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7531A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2069T>C
  hgvsp: ENSP00000401435.2:p.Met690Thr
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1516T>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1238T>C
  hgvsp: ENSP00000384294.3:p.Met413Thr
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15219T>C
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met690Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-436098-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436097
    reference: chr 17
allele count: 1
allele frequency: 8.463817181548878e-6
allele num: 118150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1838delA
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1981delA
  hgvsp: ENSP00000291074.5:p.Met661TrpfsTer7
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7530delT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1474delA
  hgvsp: ENSP00000394386.2:p.Met492TrpfsTer7
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1237delA
  hgvsp: ENSP00000384294.3:p.Met413TrpfsTer7
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*227delA
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2068delA
  hgvsp: ENSP00000401435.2:p.Met690TrpfsTer14
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.135delA
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1515delA
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2068delA
  hgvsp: ENSP00000459312.1:p.Met690TrpfsTer7
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15220delA
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met690TrpfsTer14
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-436104-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436104
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436104
    reference: chr 17
allele count: 1
allele frequency: 8.47443263673497e-6
allele num: 118002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1232T>G
  hgvsp: ENSP00000384294.3:p.Ile411Ser
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15225T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2063T>G
  hgvsp: ENSP00000459312.1:p.Ile688Ser
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1976T>G
  hgvsp: ENSP00000291074.5:p.Ile659Ser
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1510T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*222T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1469T>G
  hgvsp: ENSP00000394386.2:p.Ile490Ser
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7525A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.130T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2063T>G
  hgvsp: ENSP00000401435.2:p.Ile688Ser
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1833T>G
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile688Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-436105-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436105
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436105
    reference: chr 17
allele count: 418
allele frequency: 3.541292487037853e-3
allele num: 118036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2062A>G
  hgvsp: ENSP00000459312.1:p.Ile688Val
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.129A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1468A>G
  hgvsp: ENSP00000394386.2:p.Ile490Val
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1231A>G
  hgvsp: ENSP00000384294.3:p.Ile411Val
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1509A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1975A>G
  hgvsp: ENSP00000291074.5:p.Ile659Val
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*221A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7524T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15226A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2062A>G
  hgvsp: ENSP00000401435.2:p.Ile688Val
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1832A>G
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 37582
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 11147
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 9.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
hgvs: p.Ile688Val
num of homozygotes: 5
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/17-436109-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436109
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436109
    reference: chr 17
allele count: 1
allele frequency: 8.483059330516958e-6
allele num: 117882
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2058G>T
  hgvsp: ENSP00000401435.2:p.Lys686Asn
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2058G>T
  hgvsp: ENSP00000459312.1:p.Lys686Asn
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*217G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7520C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15230G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1505G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.125G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1828G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1464G>T
  hgvsp: ENSP00000394386.2:p.Lys488Asn
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1971G>T
  hgvsp: ENSP00000291074.5:p.Lys657Asn
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1227G>T
  hgvsp: ENSP00000384294.3:p.Lys409Asn
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys686Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

http://identifiers.org/exac.variant/17-436114-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436114
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436114
    reference: chr 17
allele count: 1
allele frequency: 8.498920637079091e-6
allele num: 117662
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7515A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2053T>G
  hgvsp: ENSP00000459312.1:p.Cys685Gly
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1966T>G
  hgvsp: ENSP00000291074.5:p.Cys656Gly
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.120T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*212T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1459T>G
  hgvsp: ENSP00000394386.2:p.Cys487Gly
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2053T>G
  hgvsp: ENSP00000401435.2:p.Cys685Gly
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15235T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1823T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1222T>G
  hgvsp: ENSP00000384294.3:p.Cys408Gly
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1500T>G
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys685Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS

17-436115-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436115
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436115
    reference: chr 17
allele count: 1
allele frequency: 8.508176357479537e-6
allele num: 117534
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2052G>C
  hgvsp: ENSP00000401435.2:p.Lys684Asn
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1221G>C
  hgvsp: ENSP00000384294.3:p.Lys407Asn
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2052G>C
  hgvsp: ENSP00000459312.1:p.Lys684Asn
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1499G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1458G>C
  hgvsp: ENSP00000394386.2:p.Lys486Asn
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15236G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7514C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.119G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1965G>C
  hgvsp: ENSP00000291074.5:p.Lys655Asn
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1822G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*211G>C
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys684Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-436121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436121
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436121
    reference: chr 17
allele count: 513
allele frequency: 4.381843961938603e-3
allele num: 117074
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2046C>T
  hgvsp: ENST00000437048.2:c.2046C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*205C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1452C>T
  hgvsp: ENST00000446250.2:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2046C>T
  hgvsp: ENST00000571805.1:c.2046C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1493C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15242C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1959C>T
  hgvsp: ENST00000291074.5:c.1959C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1816C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.113C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1215C>T
  hgvsp: ENST00000401468.3:c.1215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7508G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35774
  bin: 2.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 11438
  bin: 2.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Leu682Leu
num of homozygotes: 7
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-436136-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436136
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436136
    reference: chr 17
allele count: 1
allele frequency: 8.673929637082785e-6
allele num: 115288
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2031A>G
  hgvsp: ENST00000437048.2:c.2031A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1437A>G
  hgvsp: ENST00000446250.2:c.1437A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1801A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1200A>G
  hgvsp: ENST00000401468.3:c.1200A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1478A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*190A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7493T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15257A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1944A>G
  hgvsp: ENST00000291074.5:c.1944A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2031A>G
  hgvsp: ENST00000571805.1:c.2031A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.98A>G
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys677Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

17-436137-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436137
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436137
    reference: chr 17
allele count: 9
allele frequency: 7.824726134585289e-5
allele num: 115020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2030A>G
  hgvsp: ENSP00000459312.1:p.Lys677Arg
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2030A>G
  hgvsp: ENSP00000401435.2:p.Lys677Arg
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1800A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1943A>G
  hgvsp: ENSP00000291074.5:p.Lys648Arg
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*189A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1436A>G
  hgvsp: ENSP00000394386.2:p.Lys479Arg
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.97A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1199A>G
  hgvsp: ENSP00000384294.3:p.Lys400Arg
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1477A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7492T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15258A>G
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33312
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys677Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

17-436144-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436144
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436144
    reference: chr 17
allele count: 9
allele frequency: 7.960797495002388e-5
allele num: 113054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*182A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.90A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1192A>G
  hgvsp: ENSP00000384294.3:p.Ile398Val
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7485T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15265A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1429A>G
  hgvsp: ENSP00000394386.2:p.Ile477Val
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1793A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2023A>G
  hgvsp: ENSP00000401435.2:p.Ile675Val
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1470A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2023A>G
  hgvsp: ENSP00000459312.1:p.Ile675Val
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1936A>G
  hgvsp: ENSP00000291074.5:p.Ile646Val
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile675Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

17-436145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436145
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436145
    reference: chr 17
allele count: 12
allele frequency: 1.061928107467124e-4
allele num: 113002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1428C>T
  hgvsp: ENST00000446250.2:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*181C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2022C>T
  hgvsp: ENST00000437048.2:c.2022C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1191C>T
  hgvsp: ENST00000401468.3:c.1191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.89C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1469C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1935C>T
  hgvsp: ENST00000291074.5:c.1935C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2022C>T
  hgvsp: ENST00000571805.1:c.2022C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1792C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7484G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15266C>T
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30170
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe674Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-436146-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436146
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436146
    reference: chr 17
allele count: 1
allele frequency: 8.871382693706642e-6
allele num: 112722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.88T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1934T>G
  hgvsp: ENSP00000291074.5:p.Phe645Cys
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1190T>G
  hgvsp: ENSP00000384294.3:p.Phe397Cys
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2021T>G
  hgvsp: ENSP00000459312.1:p.Phe674Cys
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1427T>G
  hgvsp: ENSP00000394386.2:p.Phe476Cys
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1791T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1468T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2021T>G
  hgvsp: ENSP00000401435.2:p.Phe674Cys
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7483A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*180T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15267T>G
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe674Cys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-436151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436151
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436151
    reference: chr 17
allele count: 13
allele frequency: 1.17220609186489e-4
allele num: 110902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.83C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2016C>T
  hgvsp: ENST00000571805.1:c.2016C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2016C>T
  hgvsp: ENST00000437048.2:c.2016C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7478G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1929C>T
  hgvsp: ENST00000291074.5:c.1929C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15272C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1786C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1463C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*175C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1422C>T
  hgvsp: ENST00000446250.2:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1185C>T
  hgvsp: ENST00000401468.3:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26971
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2016C>T
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

17-436169-GTGACAAATT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436169
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436160
    reference: chr 17
allele count: 1
allele frequency: 9.518008071270844e-6
allele num: 105064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.56_64delAATTTGTCA
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15750
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: GTGACAAATT
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

17-436181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436181
    reference: chr 17
allele count: 3
allele frequency: 2.959513850524821e-5
allele num: 101368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1463-30C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1929-30C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.53C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15302C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1786-30C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7448G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1422-30C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*175-30C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2016-30C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1185-30C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2016-30C>T
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18548
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-436181-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436181
    reference: chr 17
allele count: 2
allele frequency: 1.973009233683214e-5
allele num: 101368
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7448G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1422-30C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1185-30C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2016-30C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.53C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1463-30C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15302C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1929-30C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*175-30C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1786-30C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2016-30C>G
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-436190-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436190
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436190
    reference: chr 17
allele count: 6
allele frequency: 6.178433149353324e-5
allele num: 97112
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7439C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2016-39G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1422-39G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2016-39G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15311G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.44G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1463-39G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1786-39G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*175-39G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1185-39G>C
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1929-39G>C
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21012
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-436193-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436193
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436193
    reference: chr 17
allele count: 1
allele frequency: 1.048811696348038e-5
allele num: 95346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*175-42A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1422-42A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2016-42A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1463-42A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.41A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7436T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15314A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1786-42A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1185-42A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2016-42A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1929-42A>G
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-436196-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 436196
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 436196
    reference: chr 17
allele count: 1288
allele frequency: 1.373720136518771e-2
allele num: 93760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1929-45T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-15317T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2016-45T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1422-45T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-7433A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1463-45T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570771
  gene symbol: VPS53
  hgvsc: ENST00000570771.1:n.38T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1185-45T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*175-45T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1786-45T>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2016-45T>G
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11327
  bin: 1.75e1
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 2.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 11515
  bin: 7.5e0
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 9.75e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 2.25e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 19869
  bin: 1.25e1
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 1.25e1
  variant carriers: 5
num of homozygotes: 82
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-440240-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 440240
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 440240
    reference: chr 17
allele count: 1
allele frequency: 8.30357884248111e-6
allele num: 120430
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-3389C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570359
  gene symbol: VPS53
  hgvsc: ENST00000570359.1:n.2205G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-19361G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1184+28G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*174+28G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2015+28G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1928+28G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1462+28G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2015+28G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1421+28G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1785+28G>T
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-440245-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 440245
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 440245
    reference: chr 17
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*174+23C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1462+23C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570359
  gene symbol: VPS53
  hgvsc: ENST00000570359.1:n.2200C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1785+23C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-19366C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-3384G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2015+23C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2015+23C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1184+23C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1421+23C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1928+23C>G
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-440247-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 440247
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 440247
    reference: chr 17
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1462+21A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1184+21A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-19368A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2015+21A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*174+21A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570359
  gene symbol: VPS53
  hgvsc: ENST00000570359.1:n.2198A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1421+21A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2015+21A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1928+21A>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-3382T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1785+21A>G
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-440247-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 440247
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 440246
    reference: chr 17
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*174+20delC
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1421+20delC
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1462+20delC
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1928+20delC
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2015+20delC
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-3381delG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1184+20delC
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2015+20delC
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570359
  gene symbol: VPS53
  hgvsc: ENST00000570359.1:n.2197delC
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-19369delC
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1785+20delC
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: TG
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/17-440253-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 440253
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 440253
    reference: chr 17
allele count: 1
allele frequency: 8.271572260455268e-6
allele num: 120896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1928+15G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2015+15G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1421+15G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-3376C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1462+15G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1785+15G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570359
  gene symbol: VPS53
  hgvsc: ENST00000570359.1:n.2192G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2015+15G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*174+15G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1184+15G>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-19374G>T
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-440253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 440253
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 440253
    reference: chr 17
allele count: 4
allele frequency: 3.308628904182107e-5
allele num: 120896
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2015+15G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1184+15G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1421+15G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-19374G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570359
  gene symbol: VPS53
  hgvsc: ENST00000570359.1:n.2192G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*174+15G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1785+15G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-3376C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2015+15G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1462+15G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1928+15G>A
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7445
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-440254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 440254
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 440254
    reference: chr 17
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1462+14C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2015+14C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*174+14C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1184+14C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2015+14C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-19375C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570359
  gene symbol: VPS53
  hgvsc: ENST00000570359.1:n.2191C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1785+14C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-3375G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1928+14C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1421+14C>T
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

17-440256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 440256
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 440256
    reference: chr 17
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1421+12G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1928+12G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*174+12G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-19377G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1462+12G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2015+12G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570359
  gene symbol: VPS53
  hgvsc: ENST00000570359.1:n.2189G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2015+12G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1184+12G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1785+12G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-3373C>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-440257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 440257
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 440257
    reference: chr 17
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1184+11G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-19378G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1785+11G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1462+11G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-3372C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570359
  gene symbol: VPS53
  hgvsc: ENST00000570359.1:n.2188G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*174+11G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1928+11G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1421+11G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2015+11G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2015+11G>A
  variant of: http://identifiers.org/hgnc/25608
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7533
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-440260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 440260
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 440260
    reference: chr 17
allele count: 2
allele frequency: 1.651227687785869e-5
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1785+8C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-3369G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1928+8C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570359
  gene symbol: VPS53
  hgvsc: ENST00000570359.1:n.2185C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1462+8C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1421+8C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-19381C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1184+8C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2015+8C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2015+8C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*174+8C>T
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2015+8C>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum

17-440260-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 440260
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 440260
    reference: chr 17
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2015+8C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1421+8C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2015+8C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1928+8C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-19381C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1785+8C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1184+8C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570359
  gene symbol: VPS53
  hgvsc: ENST00000570359.1:n.2185C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*174+8C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1462+8C>G
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-3369G>C
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2015+8C>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

17-440281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 440281
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 440281
    reference: chr 17
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1171G>A
  hgvsp: ENSP00000384294.3:p.Val391Ile
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2002G>A
  hgvsp: ENSP00000401435.2:p.Val668Ile
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-3348C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1408G>A
  hgvsp: ENSP00000394386.2:p.Val470Ile
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*161G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2002G>A
  hgvsp: ENSP00000459312.1:p.Val668Ile
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570359
  gene symbol: VPS53
  hgvsc: ENST00000570359.1:n.2164G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1915G>A
  hgvsp: ENSP00000291074.5:p.Val639Ile
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1449G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-19402G>A
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1772G>A
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val668Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-440282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 440282
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 440282
    reference: chr 17
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263300
  ensembl transcript: ENST00000570974
  gene symbol: RP5-1029F21.4
  hgvsc: ENST00000570974.1:n.291-3347G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459312
  ensembl transcript: ENST00000571805
  gene symbol: VPS53
  hgvsc: ENST00000571805.1:c.2001C>T
  hgvsp: ENST00000571805.1:c.2001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000576149
  gene symbol: VPS53
  hgvsc: ENST00000576149.1:n.1771C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000401435
  ensembl transcript: ENST00000437048
  gene symbol: VPS53
  hgvsc: ENST00000437048.2:c.2001C>T
  hgvsp: ENST00000437048.2:c.2001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000394386
  ensembl transcript: ENST00000446250
  gene symbol: VPS53
  hgvsc: ENST00000446250.2:c.1407C>T
  hgvsp: ENST00000446250.2:c.1407C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000291074
  ensembl transcript: ENST00000291074
  gene symbol: VPS53
  hgvsc: ENST00000291074.5:c.1914C>T
  hgvsp: ENST00000291074.5:c.1914C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000459159
  ensembl transcript: ENST00000574029
  gene symbol: VPS53
  hgvsc: ENST00000574029.1:c.207-19403C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141252
  ensembl transcript: ENST00000570359
  gene symbol: VPS53
  hgvsc: ENST00000570359.1:n.2163C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000384294
  ensembl transcript: ENST00000401468
  gene symbol: VPS53
  hgvsc: ENST00000401468.3:c.1170C>T
  hgvsp: ENST00000401468.3:c.1170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000373692
  ensembl transcript: ENST00000389040
  gene symbol: VPS53
  hgvsc: ENST00000389040.5:c.*160C>T
  variant of: http://identifiers.org/hgnc/25608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141252
  ensembl protein: ENSP00000458311
  ensembl transcript: ENST00000573028
  gene symbol: VPS53
  hgvsc: ENST00000573028.1:c.*1448C>T
  variant of: http://identifiers.org/hgnc/25608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys667Cys
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 4202
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 510
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.267105930055753e-4
allele num: 7892
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.69e-2

DP
type: SiteQuality
SIO_000300: 3.90552e5

QD
type: SiteQuality
SIO_000300: 1.412e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.277139208173691e-4
allele num: 7830
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.343e1

QD
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 3.73787e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.025e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

GenotypeQuality
all individuals: 433
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 695
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 2.329916123019571e-3
allele num: 2146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.93e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.63551e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.535e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

FS
type: SiteQuality
SIO_000300: 2.855e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.45e-1

GenotypeQuality
all individuals: 336
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1817
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1674
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 5.3475935828877e-3
allele num: 374
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1624e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e0

QD
type: SiteQuality
SIO_000300: 1.216e1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.188e0

DP
type: SiteQuality
SIO_000300: 2.6406e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2330
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.356116083536751e-4
allele num: 7374
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1698
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.359e0

DP
type: SiteQuality
SIO_000300: 3.33378e5

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.704e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

QD
type: SiteQuality
SIO_000300: 6.49e0

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

GenotypeQuality
all individuals: 999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2332
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 4.049676025917927e-4
allele num: 7408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.075e0

VQSLOD
type: SiteQuality
SIO_000300: 4.63e-1

DP
type: SiteQuality
SIO_000300: 3.34475e5

QD
type: SiteQuality
SIO_000300: 1.191e1

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.056e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1986
bin: 9.75e1
variant carriers: 553

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 307
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.607717041800643e-3
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 7.772020725388601e-3
allele num: 2316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 42
allele frequency: 2.464788732394366e-2
allele num: 1704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 266
allele frequency: 2.823779193205945e-2
allele num: 9420
num of homozygotes: 2

Latino
type: Population
allele count: 10
allele frequency: 2.392344497607655e-2
allele num: 418
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 3.688524590163934e-2
allele num: 244
num of homozygotes: 1

South Asian
type: Population
allele count: 217
allele frequency: 2.81015281015281e-2
allele num: 7722
num of homozygotes: 4

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 3.53959e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

FS
type: SiteQuality
SIO_000300: 5.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

GenotypeQuality
all individuals: 1986
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.061571125265393e-4
allele num: 9420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

QD
type: SiteQuality
SIO_000300: 1.328e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

DP
type: SiteQuality
SIO_000300: 3.53959e5

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.585983966899405e-4
allele num: 7734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 6.407518154634772e-4
allele num: 9364
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.198e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

DP
type: SiteQuality
SIO_000300: 3.35784e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.098e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 1056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 666
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2262
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.427184466019417e-3
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7754
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.107e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e0

DP
type: SiteQuality
SIO_000300: 3.33877e5

FS
type: SiteQuality
SIO_000300: 1.346e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.533e0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 9.75e1
variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.409171075837742e-4
allele num: 2268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Finnish)
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: 9206
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

QD
type: SiteQuality
SIO_000300: 2.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 1.819e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

DP
type: SiteQuality
SIO_000300: 3.33804e5

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 444
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.427184466019417e-3
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 1.46e1

FS
type: SiteQuality
SIO_000300: 1.2965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 3.31653e5

VQSLOD
type: SiteQuality
SIO_000300: -2.122e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

GenotypeQuality
all individuals: 429
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1015
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6429
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 85
allele frequency: 3.842676311030741e-2
allele num: 2212
num of homozygotes: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 8.264462809917356e-3
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8950
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.31418e5

QD
type: SiteQuality
SIO_000300: 1.505e1

VQSLOD
type: SiteQuality
SIO_000300: 6.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

GenotypeQuality
all individuals: 1012
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.12739571589628e-4
allele num: 8870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2202
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.358e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.184e0

DP
type: SiteQuality
SIO_000300: 3.27412e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.41e-2

QD
type: SiteQuality
SIO_000300: 1.057e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1472
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5622
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2172
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.705627705627706e-4
allele num: 7392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.273504273504274e-3
allele num: 234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.18248e5

VQSLOD
type: SiteQuality
SIO_000300: -3.477e-1

FS
type: SiteQuality
SIO_000300: 7.617e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

QD
type: SiteQuality
SIO_000300: 1.3e1

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

GenotypeQuality
all individuals: 920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.378929950358522e-4
allele num: 7252
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

QD
type: SiteQuality
SIO_000300: 1.078e1

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

DP
type: SiteQuality
SIO_000300: 3.11651e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.532e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

GenotypeQuality
all individuals: 1468
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.690431519699812e-4
allele num: 2132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.795e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

DP
type: SiteQuality
SIO_000300: 2.70483e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.79e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.443e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.204e0

QD
type: SiteQuality
SIO_000300: 1.527e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 164
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2118
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

QD
type: SiteQuality
SIO_000300: 1.212e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.62586e5

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 274
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 9.75e1
variant carriers: 45

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 48
allele frequency: 9.277155005798222e-3
allele num: 5174
num of homozygotes: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

DP
type: SiteQuality
SIO_000300: 2.52096e5

QD
type: SiteQuality
SIO_000300: 1.436e1

FS
type: SiteQuality
SIO_000300: 1.657e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

GenotypeQuality
all individuals: 5142
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6994
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6596
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3379
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10212
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5908
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5944
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14600
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.449227373068433e-5
allele num: 57984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8800
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.077e1

DP
type: SiteQuality
SIO_000300: 1.428866e6

VQSLOD
type: SiteQuality
SIO_000300: 1.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

FS
type: SiteQuality
SIO_000300: 7.815e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

GenotypeQuality
all individuals: 3553
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6062
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10874
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6600
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5812
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5142
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3488
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.727772210511766e-5
allele num: 57878
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.431135e6

MQ
type: SiteQuality
SIO_000300: 5.82e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.494e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

FS
type: SiteQuality
SIO_000300: 3.358e0

GenotypeQuality
all individuals: 531
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6963
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3517
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6333
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5144
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2673
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.162267267784011e-5
allele num: 58114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

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

FS
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.43702e6

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

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

Other
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allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8812
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5826
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.720696537958566e-5
allele num: 58116
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5844
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.719040088014852e-5
allele num: 58172
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

InbreedingCoeff
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SIO_000300: 3.4e-3

ClippingRankSum
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FS
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MQRankSum
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QD
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

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

Latino
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allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.719040088014852e-5
allele num: 58172
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5844
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.469959e6

MQRankSum
type: SiteQuality
SIO_000300: -4.69e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.035e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8840
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 5.151629632173644e-5
allele num: 58234
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.258e1

FS
type: SiteQuality
SIO_000300: 1.655e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

MQRankSum
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SIO_000300: 4.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9814
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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.710220276371597e-5
allele num: 58472
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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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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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14790
num of homozygotes: 0

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

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

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

African
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allele frequency: 1.115822361080116e-4
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
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num of homozygotes: 0

East Asian
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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: 2
allele frequency: 3.329559832190184e-5
allele num: 60068
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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VQSLOD
type: SiteQuality
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QD
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 60280
num of homozygotes: 0

South Asian
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Latino
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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MQ
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DP
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62282
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.608511763150938e-5
allele num: 15132
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10422
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
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SIO_000300: -1.701e0

DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

FS
type: SiteQuality
SIO_000300: 5.18e0

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
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bin: 7.25e1
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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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.130478337089907e-5
allele num: 63888
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15384
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10706
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

MQRankSum
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SIO_000300: 7.09e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.516e0

DP
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SIO_000300: 1.727372e6

ReadPosRankSum
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SIO_000300: -4.25e-1

ClippingRankSum
type: SiteQuality
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QD
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SIO_000300: 1.137e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.93e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15540
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548706829797119e-5
allele num: 64570
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.279e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.405e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

DP
type: SiteQuality
SIO_000300: 1.744594e6

ReadPosRankSum
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SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.865e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.02e0

MQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

GenotypeQuality
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bin: 1.75e1
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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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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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548706829797119e-5
allele num: 64570
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15540
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.405e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.279e0

MQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

MQ
type: SiteQuality
SIO_000300: 5.865e1

VQSLOD
type: SiteQuality
SIO_000300: -2.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.744594e6

GenotypeQuality
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bin: 9.25e1
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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variant carriers: 7

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10882
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.268282490597576e-4
allele num: 9572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546646869586736e-5
allele num: 64656
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.007e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
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SIO_000300: 1.747299e6

BaseQRankSum
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SIO_000300: 4.12e-1

QD
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SIO_000300: 2.51e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.86e-1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.540594669542443e-5
allele num: 64910
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.296e0

InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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SIO_000300: 1.75305e6

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeDepth
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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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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.533460099368214e-5
allele num: 65212
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
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InbreedingCoeff
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FS
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.055581018730712e-5
allele num: 65454
num of homozygotes: 0

DP
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BaseQRankSum
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FS
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SIO_000300: 4.661e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.2e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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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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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527790509365356e-5
allele num: 65454
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.769398e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 4.661e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.74e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 183
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
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529753709652746e-5
allele num: 65370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.593e1

FS
type: SiteQuality
SIO_000300: 9.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

MQRankSum
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SIO_000300: -2.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.552e-1

MQ
type: SiteQuality
SIO_000300: 5.647e1

DP
type: SiteQuality
SIO_000300: 1.767628e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.39e-1

GenotypeQuality
all individuals: 760
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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: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 411

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2103
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GenotypeQuality
all individuals: 3458
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 6
allele frequency: 6.818181818181818e-3
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 33
allele frequency: 2.971902017291066e-3
allele num: 11104
num of homozygotes: 0

South Asian
type: Population
allele count: 196
allele frequency: 1.238781443559601e-2
allele num: 15822
num of homozygotes: 4

East Asian
type: Population
allele count: 86
allele frequency: 9.997674959311788e-3
allele num: 8602
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.125051250512505e-4
allele num: 9756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 92
allele frequency: 1.407115108133737e-3
allele num: 65382
num of homozygotes: 1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.42e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: 5.9e0

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

DP
type: SiteQuality
SIO_000300: 1.78313e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.294e1

GenotypeQuality
all individuals: 933
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variant carriers: 0

GenotypeQuality
all individuals: 360
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variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 5147
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1109
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GenotypeQuality
all individuals: 141
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531252871099133e-5
allele num: 65306
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 1.768629e6

BaseQRankSum
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SIO_000300: -2.077e0

QD
type: SiteQuality
SIO_000300: 1.073e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 7.503e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 269
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65190
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.544163063619518e-4
allele num: 6476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11044
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.492e1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-2

MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 1.764596e6

FS
type: SiteQuality
SIO_000300: 4.584e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535485059730369e-5
allele num: 65126
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15750
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ClippingRankSum
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SIO_000300: 2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

FS
type: SiteQuality
SIO_000300: 8.898999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.135e-1

DP
type: SiteQuality
SIO_000300: 1.763541e6

GenotypeQuality
all individuals: 335
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 501

GenotypeQuality
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GenotypeQuality
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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: 25
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GenotypeQuality
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GenotypeQuality
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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: 1078
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GenotypeQuality
all individuals: 351
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variant carriers: 0

GenotypeQuality
all individuals: 43038
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15706
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.146788990825688e-2
allele num: 872
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 274
allele frequency: 4.254658385093168e-2
allele num: 6440
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 229
allele frequency: 3.531661577372691e-3
allele num: 64842
num of homozygotes: 2

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

DP
type: SiteQuality
SIO_000300: 1.76562e6

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

QD
type: SiteQuality
SIO_000300: 1.295e1

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
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GenotypeQuality
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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: 13
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GenotypeQuality
all individuals: 240
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10790
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.569661580963144e-5
allele num: 63708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.735e1

InbreedingCoeff
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FS
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ReadPosRankSum
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SIO_000300: 1.41e0

MQRankSum
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SIO_000300: 1.26e0

ClippingRankSum
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SIO_000300: -1.363e0

DP
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SIO_000300: 1.72936e6

BaseQRankSum
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SIO_000300: 3.29e0

VQSLOD
type: SiteQuality
SIO_000300: -5.366e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

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
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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: 9

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

African
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allele count: 7
allele frequency: 7.337526205450734e-4
allele num: 9540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.300595238095238e-5
allele num: 10752
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.449948400412796e-5
allele num: 15504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63540
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VQSLOD
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FS
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SIO_000300: 4.39e0

BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.7e-1

ReadPosRankSum
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SIO_000300: 3.87e-1

QD
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SIO_000300: 1.358e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
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SIO_000300: -8.0e-4

DP
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SIO_000300: 1.72496e6

MQRankSum
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SIO_000300: -4.86e-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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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 4
allele frequency: 6.37551801083838e-4
allele num: 6274
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.818503051718599e-5
allele num: 62260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 2
allele frequency: 2.380952380952381e-3
allele num: 840
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -2.298e0

QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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SIO_000300: 1.265e0

VQSLOD
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SIO_000300: 1.15e0

ClippingRankSum
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SIO_000300: -6.2e-1

DP
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SIO_000300: 1.685111e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.928020565552699e-4
allele num: 62240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 2.142e0

QD
type: SiteQuality
SIO_000300: 1.284e1

MQRankSum
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SIO_000300: -2.1e-1

MQ
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SIO_000300: 6.0e1

DP
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VQSLOD
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SIO_000300: 1.96e0

BaseQRankSum
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SIO_000300: -2.932e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10534
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.611240010311936e-5
allele num: 62064
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.46e-1

QD
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 13

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15220
num of homozygotes: 0

European (Non-Finnish)
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allele count: 13
allele frequency: 2.135909568874869e-4
allele num: 60864
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 (Finnish)
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allele frequency: 0.0e0
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African
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num of homozygotes: 0

East Asian
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

Latino
type: Population
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allele frequency: 1.031778786628147e-4
allele num: 9692
num of homozygotes: 0

East Asian
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.456132693147097e-5
allele num: 54984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.648e0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.383751e6

FS
type: SiteQuality
SIO_000300: 7.764e0

QD
type: SiteQuality
SIO_000300: 1.166e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

GenotypeQuality
all individuals: 692
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18548
bin: 2.25e1
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GenotypeQuality
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bin: 8.75e1
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
all individuals: 929
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variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5142
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 167
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7396
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.378359751895245e-4
allele num: 14510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 7.764e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.648e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

DP
type: SiteQuality
SIO_000300: 1.383751e6

GenotypeQuality
all individuals: 7871
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1467
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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: 1523
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5139
bin: 9.75e1
variant carriers: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52302
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.210526315789474e-4
allele num: 14250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

FS
type: SiteQuality
SIO_000300: 7.347e0

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

DP
type: SiteQuality
SIO_000300: 1.327955e6

QD
type: SiteQuality
SIO_000300: 1.398e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.99e-1

GenotypeQuality
all individuals: 454
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1779
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
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variant carriers: 0

GenotypeQuality
all individuals: 1622
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variant carriers: 0

GenotypeQuality
all individuals: 5306
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variant carriers: 0

GenotypeQuality
all individuals: 5505
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variant carriers: 0

GenotypeQuality
all individuals: 5295
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variant carriers: 0

GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 1435
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2595
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GenotypeQuality
all individuals: 850
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variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16385
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5136
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.955187111406562e-5
allele num: 51146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5468
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.224e-1

DP
type: SiteQuality
SIO_000300: 1.312739e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.737e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

QD
type: SiteQuality
SIO_000300: 6.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 8

GenotypeQuality
all individuals: 7867
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 866
bin: 7.75e1
variant carriers: 26

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 24

GenotypeQuality
all individuals: 1837
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 357
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 5967
bin: 9.75e1
variant carriers: 1140

GenotypeQuality
all individuals: 2645
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 5326
bin: 3.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2498
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variant carriers: 6

GenotypeQuality
all individuals: 1392
bin: 6.75e1
variant carriers: 19

GenotypeQuality
all individuals: 5412
bin: 2.75e1
variant carriers: 9

GenotypeQuality
all individuals: 15207
bin: 2.25e1
variant carriers: 14

GenotypeQuality
all individuals: 681
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variant carriers: 25

GenotypeQuality
all individuals: 2233
bin: 4.75e1
variant carriers: 17

GenotypeQuality
all individuals: 598
bin: 7.25e1
variant carriers: 15

GenotypeQuality
all individuals: 4247
bin: 6.25e1
variant carriers: 17

GenotypeQuality
all individuals: 705
bin: 5.25e1
variant carriers: 22

GenotypeQuality
all individuals: 469
bin: 9.25e1
variant carriers: 20

Latino
type: Population
allele count: 59
allele frequency: 7.02883011675006e-3
allele num: 8394
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 5.780346820809248e-3
allele num: 692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6898
num of homozygotes: 0

African
type: Population
allele count: 1197
allele frequency: 1.455850158112381e-1
allele num: 8222
num of homozygotes: 82

South Asian
type: Population
allele count: 2
allele frequency: 1.42673705236125e-4
allele num: 14018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 5.189206450582788e-4
allele num: 50104
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.370000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.33e0

QD
type: SiteQuality
SIO_000300: 1.524e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.758e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.315637e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

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

GenotypeQuality
all individuals: 43284
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variant carriers: 0

GenotypeQuality
all individuals: 581
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 203
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variant carriers: 0

GenotypeQuality
all individuals: 513
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GenotypeQuality
all individuals: 363
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variant carriers: 0

GenotypeQuality
all individuals: 217
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GenotypeQuality
all individuals: 1721
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GenotypeQuality
all individuals: 200
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 895
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variant carriers: 0

GenotypeQuality
all individuals: 160
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variant carriers: 0

GenotypeQuality
all individuals: 328
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GenotypeQuality
all individuals: 1772
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2155
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 517
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variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
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: 1
allele frequency: 1.508432135638218e-5
allele num: 66294
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.865e0

DP
type: SiteQuality
SIO_000300: 1.609692e6

MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

QD
type: SiteQuality
SIO_000300: 1.827e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.324e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.237e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 274
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 436
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 372
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GenotypeQuality
all individuals: 44113
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variant carriers: 0

GenotypeQuality
all individuals: 311
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GenotypeQuality
all individuals: 131
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GenotypeQuality
all individuals: 1798
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variant carriers: 0

GenotypeQuality
all individuals: 235
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GenotypeQuality
all individuals: 486
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GenotypeQuality
all individuals: 903
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7373
bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.133464180569185e-5
allele num: 16304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66392
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.61949e6

QD
type: SiteQuality
SIO_000300: 1.416e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 2155
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GenotypeQuality
all individuals: 106
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GenotypeQuality
all individuals: 368
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GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 7392
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 397
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GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505661286437003e-5
allele num: 66416
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.64e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

MQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

DP
type: SiteQuality
SIO_000300: 1.62133e6

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

QD
type: SiteQuality
SIO_000300: 1.186e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 106
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 130
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GenotypeQuality
all individuals: 214
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 368
bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
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SIO_000300: 2.88e0

FS
type: SiteQuality
SIO_000300: 7.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

DP
type: SiteQuality
SIO_000300: 1.62133e6

QD
type: SiteQuality
SIO_000300: 1.186e1

GenotypeQuality
all individuals: 44503
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
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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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bin: 2.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
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SIO_000300: -1.723e0

FS
type: SiteQuality
SIO_000300: 1.581e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

DP
type: SiteQuality
SIO_000300: 1.628999e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511956685215822e-5
allele num: 66490
num of homozygotes: 0

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.723e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

FS
type: SiteQuality
SIO_000300: 1.581e0

DP
type: SiteQuality
SIO_000300: 1.628999e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 144
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
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 7469
bin: 6.75e1
variant carriers: 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: 16396
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.19e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.630781e6

FS
type: SiteQuality
SIO_000300: 2.135e0

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
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

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.123e0

InbreedingCoeff
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.632449e6

QD
type: SiteQuality
SIO_000300: 1.245e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.16e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
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: 10376
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

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

East Asian
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allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

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

South Asian
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Other
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QD
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SIO_000300: 1.16e1

VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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FS
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MQ
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BaseQRankSum
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GenotypeDepth
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variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 7.03e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e0

DP
type: SiteQuality
SIO_000300: 1.635078e6

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

GenotypeQuality
all individuals: 45301
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.279e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

DP
type: SiteQuality
SIO_000300: 1.640237e6

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 2.587e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-1

GenotypeQuality
all individuals: 45300
bin: 6.25e1
variant carriers: 0