8-100133450-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133450
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133450
    reference: chr 8
allele count: 66
allele frequency: 5.537377296753083e-4
allele num: 119190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.108A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.983A>G
  hgvsp: ENSP00000430900.1:p.His328Arg
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.983A>G
  hgvsp: ENSP00000351346.2:p.His328Arg
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.983A>G
  hgvsp: ENSP00000349685.2:p.His328Arg
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.983A>G
  hgvsp: ENSP00000379318.1:p.His328Arg
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.983A>G
  hgvsp: ENSP00000398472.2:p.His328Arg
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.983A>G
  hgvsp: ENSP00000347281.1:p.His328Arg
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43361
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His328Arg
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

8-100133451-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133451
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133451
    reference: chr 8
allele count: 1
allele frequency: 8.380403265005112e-6
allele num: 119326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.984T>A
  hgvsp: ENSP00000347281.1:p.His328Gln
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.984T>A
  hgvsp: ENSP00000349685.2:p.His328Gln
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.984T>A
  hgvsp: ENSP00000379318.1:p.His328Gln
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.984T>A
  hgvsp: ENSP00000398472.2:p.His328Gln
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.109T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.984T>A
  hgvsp: ENSP00000351346.2:p.His328Gln
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.984T>A
  hgvsp: ENSP00000430900.1:p.His328Gln
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His328Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

8-100133460-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133460
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133460
    reference: chr 8
allele count: 5
allele frequency: 4.163544008660171e-5
allele num: 120090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.993A>G
  hgvsp: ENST00000441350.2:c.993A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.993A>G
  hgvsp: ENST00000358544.2:c.993A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.993A>G
  hgvsp: ENST00000357162.2:c.993A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.993A>G
  hgvsp: ENST00000355155.1:c.993A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.118A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.993A>G
  hgvsp: ENST00000496144.1:c.993A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.993A>G
  hgvsp: ENST00000395996.1:c.993A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln331Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-100133466-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133466
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133466
    reference: chr 8
allele count: 2
allele frequency: 1.66159879035608e-5
allele num: 120366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.999A>G
  hgvsp: ENST00000357162.2:c.999A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.999A>G
  hgvsp: ENST00000496144.1:c.999A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.999A>G
  hgvsp: ENST00000395996.1:c.999A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.999A>G
  hgvsp: ENST00000358544.2:c.999A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.999A>G
  hgvsp: ENST00000441350.2:c.999A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.999A>G
  hgvsp: ENST00000355155.1:c.999A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.124A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu333Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

8-100133467-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133467
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133467
    reference: chr 8
allele count: 21
allele frequency: 1.74412810205641e-4
allele num: 120404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1000T>C
  hgvsp: ENSP00000379318.1:p.Tyr334His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1000T>C
  hgvsp: ENSP00000398472.2:p.Tyr334His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1000T>C
  hgvsp: ENSP00000349685.2:p.Tyr334His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1000T>C
  hgvsp: ENSP00000430900.1:p.Tyr334His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.125T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1000T>C
  hgvsp: ENSP00000347281.1:p.Tyr334His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1000T>C
  hgvsp: ENSP00000351346.2:p.Tyr334His
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10007
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42964
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5923
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr334His
num of homozygotes: 1
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

8-100133478-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133478
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133478
    reference: chr 8
allele count: 1
allele frequency: 8.275131574592036e-6
allele num: 120844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1011A>G
  hgvsp: ENST00000357162.2:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1011A>G
  hgvsp: ENST00000358544.2:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1011A>G
  hgvsp: ENST00000496144.1:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.136A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1011A>G
  hgvsp: ENST00000355155.1:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1011A>G
  hgvsp: ENST00000395996.1:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1011A>G
  hgvsp: ENST00000441350.2:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43932
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln337Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

8-100133483-AGGAGCAGCCACAGGGATGGGTGTCATGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133483
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133455
    reference: chr 8
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsp: ENSP00000379318.1:p.Glu340ProfsTer9
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsp: ENSP00000347281.1:p.Glu340ProfsTer9
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsp: ENSP00000351346.2:p.Glu340ProfsTer9
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsp: ENSP00000398472.2:p.Glu340ProfsTer9
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsp: ENSP00000349685.2:p.Glu340ProfsTer9
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsp: ENSP00000430900.1:p.Glu340ProfsTer9
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu340ProfsTer9
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: AGGAGCAGCCACAGGGATGGGTGTCATGG
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

8-100133507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133507
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133507
    reference: chr 8
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1040C>T
  hgvsp: ENSP00000398472.2:p.Ser347Leu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1040C>T
  hgvsp: ENSP00000349685.2:p.Ser347Leu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1040C>T
  hgvsp: ENSP00000347281.1:p.Ser347Leu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1040C>T
  hgvsp: ENSP00000351346.2:p.Ser347Leu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1040C>T
  hgvsp: ENSP00000379318.1:p.Ser347Leu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1040C>T
  hgvsp: ENSP00000430900.1:p.Ser347Leu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.165C>T
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser347Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

8-100133508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133508
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133508
    reference: chr 8
allele count: 46
allele frequency: 3.792563278093825e-4
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1041A>G
  hgvsp: ENST00000496144.1:c.1041A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1041A>G
  hgvsp: ENST00000395996.1:c.1041A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1041A>G
  hgvsp: ENST00000441350.2:c.1041A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1041A>G
  hgvsp: ENST00000358544.2:c.1041A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1041A>G
  hgvsp: ENST00000357162.2:c.1041A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1041A>G
  hgvsp: ENST00000355155.1:c.1041A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.166A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser347Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

8-100133514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133514
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133514
    reference: chr 8
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1047C>T
  hgvsp: ENST00000355155.1:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1047C>T
  hgvsp: ENST00000395996.1:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1047C>T
  hgvsp: ENST00000357162.2:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.172C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1047C>T
  hgvsp: ENST00000441350.2:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1047C>T
  hgvsp: ENST00000496144.1:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1047C>T
  hgvsp: ENST00000358544.2:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala349Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/8-100133531-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133531
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133531
    reference: chr 8
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1064C>A
  hgvsp: ENSP00000398472.2:p.Ala355Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1064C>A
  hgvsp: ENSP00000349685.2:p.Ala355Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1064C>A
  hgvsp: ENSP00000379318.1:p.Ala355Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1064C>A
  hgvsp: ENSP00000347281.1:p.Ala355Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1064C>A
  hgvsp: ENSP00000351346.2:p.Ala355Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.189C>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1064C>A
  hgvsp: ENSP00000430900.1:p.Ala355Glu
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala355Glu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

8-100133540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133540
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133540
    reference: chr 8
allele count: 43
allele frequency: 3.543118933438803e-4
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1073G>A
  hgvsp: ENSP00000351346.2:p.Ser358Asn
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1073G>A
  hgvsp: ENSP00000349685.2:p.Ser358Asn
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.198G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1073G>A
  hgvsp: ENSP00000398472.2:p.Ser358Asn
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1073G>A
  hgvsp: ENSP00000347281.1:p.Ser358Asn
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1073G>A
  hgvsp: ENSP00000430900.1:p.Ser358Asn
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1073G>A
  hgvsp: ENSP00000379318.1:p.Ser358Asn
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser358Asn
num of homozygotes: 1
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

8-100133543-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133543
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133543
    reference: chr 8
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1076A>G
  hgvsp: ENSP00000347281.1:p.Tyr359Cys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1076A>G
  hgvsp: ENSP00000398472.2:p.Tyr359Cys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1076A>G
  hgvsp: ENSP00000379318.1:p.Tyr359Cys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1076A>G
  hgvsp: ENSP00000430900.1:p.Tyr359Cys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1076A>G
  hgvsp: ENSP00000349685.2:p.Tyr359Cys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1076A>G
  hgvsp: ENSP00000351346.2:p.Tyr359Cys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.201A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr359Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

8-100133545-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133545
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133544
    reference: chr 8
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1079delA
  hgvsp: ENSP00000351346.2:p.Asp360AlafsTer24
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1079delA
  hgvsp: ENSP00000430900.1:p.Asp360AlafsTer24
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1079delA
  hgvsp: ENSP00000349685.2:p.Asp360AlafsTer24
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1079delA
  hgvsp: ENSP00000379318.1:p.Asp360AlafsTer24
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1079delA
  hgvsp: ENSP00000347281.1:p.Asp360AlafsTer24
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.204delA
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1079delA
  hgvsp: ENSP00000398472.2:p.Asp360AlafsTer24
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6255
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp360AlafsTer24
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: GA
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

8-100133547-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133547
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133547
    reference: chr 8
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1080C>G
  hgvsp: ENSP00000379318.1:p.Asp360Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.205C>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1080C>G
  hgvsp: ENSP00000347281.1:p.Asp360Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1080C>G
  hgvsp: ENSP00000351346.2:p.Asp360Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1080C>G
  hgvsp: ENSP00000430900.1:p.Asp360Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1080C>G
  hgvsp: ENSP00000349685.2:p.Asp360Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1080C>G
  hgvsp: ENSP00000398472.2:p.Asp360Glu
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp360Glu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

8-100133547-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133547
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133547
    reference: chr 8
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1080C>T
  hgvsp: ENST00000441350.2:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1080C>T
  hgvsp: ENST00000358544.2:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1080C>T
  hgvsp: ENST00000395996.1:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.205C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1080C>T
  hgvsp: ENST00000496144.1:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1080C>T
  hgvsp: ENST00000355155.1:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1080C>T
  hgvsp: ENST00000357162.2:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp360Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-100133548-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133548
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133548
    reference: chr 8
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1081G>A
  hgvsp: ENSP00000351346.2:p.Asp361Asn
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.206G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1081G>A
  hgvsp: ENSP00000347281.1:p.Asp361Asn
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1081G>A
  hgvsp: ENSP00000379318.1:p.Asp361Asn
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1081G>A
  hgvsp: ENSP00000398472.2:p.Asp361Asn
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1081G>A
  hgvsp: ENSP00000349685.2:p.Asp361Asn
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1081G>A
  hgvsp: ENSP00000430900.1:p.Asp361Asn
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp361Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

8-100133549-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133549
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133549
    reference: chr 8
allele count: 7
allele frequency: 5.767392808885081e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1082A>G
  hgvsp: ENSP00000379318.1:p.Asp361Gly
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1082A>G
  hgvsp: ENSP00000349685.2:p.Asp361Gly
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1082A>G
  hgvsp: ENSP00000351346.2:p.Asp361Gly
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1082A>G
  hgvsp: ENSP00000430900.1:p.Asp361Gly
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1082A>G
  hgvsp: ENSP00000398472.2:p.Asp361Gly
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.207A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1082A>G
  hgvsp: ENSP00000347281.1:p.Asp361Gly
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp361Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-100133552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133552
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133552
    reference: chr 8
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1085G>A
  hgvsp: ENSP00000430900.1:p.Gly362Asp
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1085G>A
  hgvsp: ENSP00000349685.2:p.Gly362Asp
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1085G>A
  hgvsp: ENSP00000379318.1:p.Gly362Asp
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.210G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1085G>A
  hgvsp: ENSP00000398472.2:p.Gly362Asp
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1085G>A
  hgvsp: ENSP00000347281.1:p.Gly362Asp
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1085G>A
  hgvsp: ENSP00000351346.2:p.Gly362Asp
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly362Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

8-100133553-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133553
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133553
    reference: chr 8
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1086C>T
  hgvsp: ENST00000496144.1:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1086C>T
  hgvsp: ENST00000395996.1:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1086C>T
  hgvsp: ENST00000357162.2:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1086C>T
  hgvsp: ENST00000358544.2:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.211C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1086C>T
  hgvsp: ENST00000355155.1:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1086C>T
  hgvsp: ENST00000441350.2:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6261
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly362Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

8-100133554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133554
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133554
    reference: chr 8
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1087G>A
  hgvsp: ENSP00000351346.2:p.Glu363Lys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1087G>A
  hgvsp: ENSP00000430900.1:p.Glu363Lys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1087G>A
  hgvsp: ENSP00000347281.1:p.Glu363Lys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1087G>A
  hgvsp: ENSP00000349685.2:p.Glu363Lys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000524330
  gene symbol: VPS13B
  hgvsc: ENST00000524330.1:n.212G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1087G>A
  hgvsp: ENSP00000398472.2:p.Glu363Lys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1087G>A
  hgvsp: ENSP00000379318.1:p.Glu363Lys
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu363Lys
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

8-100133574-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133574
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133574
    reference: chr 8
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1107C>T
  hgvsp: ENST00000395996.1:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1107C>T
  hgvsp: ENST00000357162.2:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1107C>T
  hgvsp: ENST00000496144.1:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1107C>T
  hgvsp: ENST00000355155.1:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1107C>T
  hgvsp: ENST00000358544.2:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1107C>T
  hgvsp: ENST00000441350.2:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43847
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn369Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

8-100133575-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133575
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133575
    reference: chr 8
allele count: 5
allele frequency: 4.119159032491926e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1108G>C
  hgvsp: ENSP00000347281.1:p.Asp370His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1108G>C
  hgvsp: ENSP00000379318.1:p.Asp370His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1108G>C
  hgvsp: ENSP00000349685.2:p.Asp370His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1108G>C
  hgvsp: ENSP00000398472.2:p.Asp370His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1108G>C
  hgvsp: ENSP00000430900.1:p.Asp370His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1108G>C
  hgvsp: ENSP00000351346.2:p.Asp370His
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp370His
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/8-100133582-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133582
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133582
    reference: chr 8
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1115C>A
  hgvsp: ENSP00000347281.1:p.Ala372Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1115C>A
  hgvsp: ENSP00000379318.1:p.Ala372Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1115C>A
  hgvsp: ENSP00000430900.1:p.Ala372Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1115C>A
  hgvsp: ENSP00000349685.2:p.Ala372Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1115C>A
  hgvsp: ENSP00000351346.2:p.Ala372Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1115C>A
  hgvsp: ENSP00000398472.2:p.Ala372Glu
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala372Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

8-100133585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133585
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133585
    reference: chr 8
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1118C>T
  hgvsp: ENSP00000379318.1:p.Ser373Leu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1118C>T
  hgvsp: ENSP00000398472.2:p.Ser373Leu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1118C>T
  hgvsp: ENSP00000351346.2:p.Ser373Leu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1118C>T
  hgvsp: ENSP00000347281.1:p.Ser373Leu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1118C>T
  hgvsp: ENSP00000430900.1:p.Ser373Leu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1118C>T
  hgvsp: ENSP00000349685.2:p.Ser373Leu
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser373Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

8-100133588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133588
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133588
    reference: chr 8
allele count: 4
allele frequency: 3.295272930980509e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1121C>T
  hgvsp: ENSP00000351346.2:p.Thr374Ile
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1121C>T
  hgvsp: ENSP00000430900.1:p.Thr374Ile
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1121C>T
  hgvsp: ENSP00000379318.1:p.Thr374Ile
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1121C>T
  hgvsp: ENSP00000347281.1:p.Thr374Ile
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1121C>T
  hgvsp: ENSP00000398472.2:p.Thr374Ile
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1121C>T
  hgvsp: ENSP00000349685.2:p.Thr374Ile
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr374Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

8-100133596-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133596
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133596
    reference: chr 8
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1129C>G
  hgvsp: ENSP00000379318.1:p.Gln377Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1129C>G
  hgvsp: ENSP00000351346.2:p.Gln377Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1129C>G
  hgvsp: ENSP00000430900.1:p.Gln377Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1129C>G
  hgvsp: ENSP00000349685.2:p.Gln377Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1129C>G
  hgvsp: ENSP00000398472.2:p.Gln377Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1129C>G
  hgvsp: ENSP00000347281.1:p.Gln377Glu
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln377Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

8-100133608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133608
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133608
    reference: chr 8
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1141C>T
  hgvsp: ENSP00000349685.2:p.Gln381Ter
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1141C>T
  hgvsp: ENSP00000347281.1:p.Gln381Ter
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1141C>T
  hgvsp: ENSP00000351346.2:p.Gln381Ter
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1141C>T
  hgvsp: ENSP00000398472.2:p.Gln381Ter
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1141C>T
  hgvsp: ENSP00000430900.1:p.Gln381Ter
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1141C>T
  hgvsp: ENSP00000379318.1:p.Gln381Ter
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln381Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

8-100133635-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133635
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133635
    reference: chr 8
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1168A>G
  hgvsp: ENSP00000398472.2:p.Ile390Val
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1168A>G
  hgvsp: ENSP00000351346.2:p.Ile390Val
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1168A>G
  hgvsp: ENSP00000430900.1:p.Ile390Val
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1168A>G
  hgvsp: ENSP00000349685.2:p.Ile390Val
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1168A>G
  hgvsp: ENSP00000347281.1:p.Ile390Val
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1168A>G
  hgvsp: ENSP00000379318.1:p.Ile390Val
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile390Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

8-100133637-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133637
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133637
    reference: chr 8
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1170A>G
  hgvsp: ENSP00000347281.1:p.Ile390Met
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1170A>G
  hgvsp: ENSP00000379318.1:p.Ile390Met
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1170A>G
  hgvsp: ENSP00000349685.2:p.Ile390Met
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1170A>G
  hgvsp: ENSP00000398472.2:p.Ile390Met
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1170A>G
  hgvsp: ENSP00000351346.2:p.Ile390Met
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1170A>G
  hgvsp: ENSP00000430900.1:p.Ile390Met
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile390Met
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

8-100133639-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133639
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133639
    reference: chr 8
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1172G>T
  hgvsp: ENSP00000430900.1:p.Gly391Val
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1172G>T
  hgvsp: ENSP00000379318.1:p.Gly391Val
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1172G>T
  hgvsp: ENSP00000351346.2:p.Gly391Val
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1172G>T
  hgvsp: ENSP00000398472.2:p.Gly391Val
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1172G>T
  hgvsp: ENSP00000349685.2:p.Gly391Val
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1172G>T
  hgvsp: ENSP00000347281.1:p.Gly391Val
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly391Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

8-100133653-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133653
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133653
    reference: chr 8
allele count: 8
allele frequency: 6.593044338223174e-5
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1186A>G
  hgvsp: ENSP00000347281.1:p.Lys396Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1186A>G
  hgvsp: ENSP00000351346.2:p.Lys396Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1186A>G
  hgvsp: ENSP00000349685.2:p.Lys396Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1186A>G
  hgvsp: ENSP00000430900.1:p.Lys396Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1186A>G
  hgvsp: ENSP00000398472.2:p.Lys396Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1186A>G
  hgvsp: ENSP00000379318.1:p.Lys396Glu
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys396Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

8-100133656-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133656
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133656
    reference: chr 8
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1189G>T
  hgvsp: ENSP00000430900.1:p.Ala397Ser
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1189G>T
  hgvsp: ENSP00000351346.2:p.Ala397Ser
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1189G>T
  hgvsp: ENSP00000349685.2:p.Ala397Ser
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1189G>T
  hgvsp: ENSP00000379318.1:p.Ala397Ser
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1189G>T
  hgvsp: ENSP00000347281.1:p.Ala397Ser
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1189G>T
  hgvsp: ENSP00000398472.2:p.Ala397Ser
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala397Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

8-100133660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133660
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133660
    reference: chr 8
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1193C>T
  hgvsp: ENSP00000351346.2:p.Thr398Met
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1193C>T
  hgvsp: ENSP00000347281.1:p.Thr398Met
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1193C>T
  hgvsp: ENSP00000398472.2:p.Thr398Met
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1193C>T
  hgvsp: ENSP00000379318.1:p.Thr398Met
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1193C>T
  hgvsp: ENSP00000430900.1:p.Thr398Met
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1193C>T
  hgvsp: ENSP00000349685.2:p.Thr398Met
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr398Met
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/8-100133676-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133676
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133676
    reference: chr 8
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+3A>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+3A>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+3A>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1209A>C
  hgvsp: ENST00000441350.2:c.1209A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+3A>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+3A>C
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6206
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1206+3A>C
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

8-100133679-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133679
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133679
    reference: chr 8
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1212T>A
  hgvsp: ENST00000441350.2:c.1212T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+6T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+6T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+6T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+6T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+6T>A
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1206+6T>A
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

8-100133690-GCTGTTTATATCTCTAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133690
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133674
    reference: chr 8
allele count: 125
allele frequency: 1.031506329322837e-3
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsp: ENSP00000398472.2:p.Cys409AsnfsTer5
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 6115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 9.75e1
  variant carriers: 124
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys409AsnfsTer5
num of homozygotes: 1
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: GCTGTTTATATCTCTAT
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-100133696-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133696
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133696
    reference: chr 8
allele count: 2
allele frequency: 1.653767281868095e-5
allele num: 120936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+23T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+23T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+23T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+23T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1229T>A
  hgvsp: ENSP00000398472.2:p.Leu410Ter
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+23T>A
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu410Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

8-100133697-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133697
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133697
    reference: chr 8
allele count: 10
allele frequency: 8.267332462507647e-5
allele num: 120958
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+24A>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+24A>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+24A>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+24A>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1230A>T
  hgvsp: ENSP00000398472.2:p.Leu410Phe
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+24A>T
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 41137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu410Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

8-100133705-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133705
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133705
    reference: chr 8
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+32A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+32A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+32A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1238A>G
  hgvsp: ENSP00000398472.2:p.Tyr413Cys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+32A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+32A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr413Cys
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

8-100133706-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133706
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133706
    reference: chr 8
allele count: 90672
allele frequency: 7.503475670307845e-1
allele num: 120840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+33T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+33T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+33T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+33T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1239T>G
  hgvsp: ENSP00000398472.2:p.Tyr413Ter
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+33T>G
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 1453
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 6.25e1
  variant carriers: 4259
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 4.75e1
  variant carriers: 2089
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 8.75e1
  variant carriers: 2815
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 6.75e1
  variant carriers: 4463
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 7.25e1
  variant carriers: 4346
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 432
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 9.25e1
  variant carriers: 2347
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.25e1
  variant carriers: 1358
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.75e1
  variant carriers: 954
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.75e1
  variant carriers: 1262
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 2.75e1
  variant carriers: 1576
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 8.25e1
  variant carriers: 3399
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 5.25e1
  variant carriers: 2942
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 5.75e1
  variant carriers: 3680
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 9.75e1
  variant carriers: 13068
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 2.25e1
  variant carriers: 1431
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 7.75e1
  variant carriers: 3966
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 261
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 198
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 6.25e1
  variant carriers: 385
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 52287
  bin: 9.75e1
  variant carriers: 52158
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.75e1
  variant carriers: 437
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.25e1
  variant carriers: 296
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 9.25e1
  variant carriers: 399
hgvs: p.Tyr413Ter
num of homozygotes: 34863
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

8-100133709-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133709
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133709
    reference: chr 8
allele count: 1
allele frequency: 8.456373568758774e-6
allele num: 118254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+36A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.1242A>G
  hgvsp: ENST00000441350.2:c.1242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+36A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+36A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+36A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+36A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8116
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln414Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

8-100133719-T-TGAGCAGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133719
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133727
    reference: chr 8
allele count: 1
allele frequency: 8.554466286848364e-6
allele num: 116898
alternate allele: TGAGCAGGA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.*4_*5insGAGCAGGA
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 21466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8112
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

8-100133724-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133724
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133724
    reference: chr 8
allele count: 5
allele frequency: 4.307151594507521e-5
allele num: 116086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.*9T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+51T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+51T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+51T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+51T>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+51T>A
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20906
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28371
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

8-100133729-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133729
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133729
    reference: chr 8
allele count: 1
allele frequency: 8.659058240825727e-6
allele num: 115486
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+56A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+56A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+56A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+56A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.*14A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+56A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

8-100133731-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133731
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133731
    reference: chr 8
allele count: 1
allele frequency: 8.67799434194769e-6
allele num: 115234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+58T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+58T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+58T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+58T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.*16T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+58T>C
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

8-100133732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133732
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133732
    reference: chr 8
allele count: 1
allele frequency: 8.688248275382717e-6
allele num: 115098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+59G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+59G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+59G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+59G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+59G>A
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20101
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-100133746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133746
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133746
    reference: chr 8
allele count: 1
allele frequency: 8.883992821733801e-6
allele num: 112562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+73A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+73A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.*31A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+73A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+73A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+73A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

8-100133758-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133758
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133758
    reference: chr 8
allele count: 67
allele frequency: 6.072580937533989e-4
allele num: 110332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+85G>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+85G>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.*43G>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+85G>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+85G>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+85G>C
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8164
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11328
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8141
  bin: 9.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 4687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

8-100133759-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100133759
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100133759
    reference: chr 8
allele count: 1
allele frequency: 9.073257480900793e-6
allele num: 110214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1206+86T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000398472
  ensembl transcript: ENST00000441350
  gene symbol: VPS13B
  hgvsc: ENST00000441350.2:c.*44T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1206+86T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1206+86T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1206+86T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1206+86T>C
  variant of: http://identifiers.org/hgnc/2183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8097
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

8-100146809-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146809
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146809
    reference: chr 8
allele count: 10
allele frequency: 9.50425790754258e-5
allele num: 105216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1207-51A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1207-51A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1207-51A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1207-51A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1207-51A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11880
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11356
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9715
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4544
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4487
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4746
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
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genotype quality: GenotypeQuality
  all individuals: 14335
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genotype quality: GenotypeQuality
  all individuals: 893
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genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

8-100146812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146812
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146812
    reference: chr 8
allele count: 1
allele frequency: 9.505342002205239e-6
allele num: 105204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1207-48G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1207-48G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1207-48G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1207-48G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1207-48G>A
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
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genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4061
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2482
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4687
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-100146822-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146822
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146822
    reference: chr 8
allele count: 1
allele frequency: 9.419033983874614e-6
allele num: 106168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1207-38A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1207-38A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1207-38A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1207-38A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1207-38A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

8-100146823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146823
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146823
    reference: chr 8
allele count: 1
allele frequency: 9.405745029063752e-6
allele num: 106318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1207-37C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1207-37C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1207-37C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1207-37C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1207-37C>T
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21053
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5032
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28057
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

8-100146824-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146824
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146824
    reference: chr 8
allele count: 1
allele frequency: 9.393552265724806e-6
allele num: 106456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1207-36T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1207-36T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1207-36T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1207-36T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1207-36T>C
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7066
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 242
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genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 465
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ

8-100146834-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146834
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146834
    reference: chr 8
allele count: 1
allele frequency: 9.078034787029304e-6
allele num: 110156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1207-26T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1207-26T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1207-26T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1207-26T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1207-26T>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28313
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

8-100146839-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146839
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146839
    reference: chr 8
allele count: 1
allele frequency: 8.810727942342596e-6
allele num: 113498
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1207-21T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1207-21T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1207-21T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1207-21T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1207-21T>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

8-100146849-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146849
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146849
    reference: chr 8
allele count: 8
allele frequency: 6.788981483053005e-5
allele num: 117838
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1207-11A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1207-11A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1207-11A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1207-11A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1207-11A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3637
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5969
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-100146855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146855
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146855
    reference: chr 8
allele count: 1
allele frequency: 8.381948635418762e-6
allele num: 119304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1207-5C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1207-5C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1207-5C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1207-5C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1207-5C>T
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1207-5C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

8-100146862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146862
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146862
    reference: chr 8
allele count: 3
allele frequency: 2.501208917643528e-5
allele num: 119942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1209C>T
  hgvsp: ENST00000355155.1:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1209C>T
  hgvsp: ENST00000496144.1:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1209C>T
  hgvsp: ENST00000358544.2:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1209C>T
  hgvsp: ENST00000357162.2:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1209C>T
  hgvsp: ENST00000395996.1:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13510
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1209C>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/8-100146873-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146873
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146873
    reference: chr 8
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1220A>C
  hgvsp: ENSP00000379318.1:p.Gln407Pro
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1220A>C
  hgvsp: ENSP00000351346.2:p.Gln407Pro
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1220A>C
  hgvsp: ENSP00000349685.2:p.Gln407Pro
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1220A>C
  hgvsp: ENSP00000347281.1:p.Gln407Pro
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1220A>C
  hgvsp: ENSP00000430900.1:p.Gln407Pro
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln407Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

8-100146901-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146901
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146901
    reference: chr 8
allele count: 150
allele frequency: 1.24178353229465e-3
allele num: 120794
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1248G>T
  hgvsp: ENSP00000379318.1:p.Gln416His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1248G>T
  hgvsp: ENSP00000351346.2:p.Gln416His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1248G>T
  hgvsp: ENSP00000347281.1:p.Gln416His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1248G>T
  hgvsp: ENSP00000430900.1:p.Gln416His
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1248G>T
  hgvsp: ENSP00000349685.2:p.Gln416His
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 13717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 34711
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 9.75e1
  variant carriers: 150
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln416His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

8-100146925-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146925
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146925
    reference: chr 8
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1272G>T
  hgvsp: ENSP00000430900.1:p.Leu424Phe
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1272G>T
  hgvsp: ENSP00000347281.1:p.Leu424Phe
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1272G>T
  hgvsp: ENSP00000349685.2:p.Leu424Phe
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1272G>T
  hgvsp: ENSP00000379318.1:p.Leu424Phe
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1272G>T
  hgvsp: ENSP00000351346.2:p.Leu424Phe
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu424Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

8-100146927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146927
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146927
    reference: chr 8
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1274G>A
  hgvsp: ENSP00000349685.2:p.Cys425Tyr
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1274G>A
  hgvsp: ENSP00000351346.2:p.Cys425Tyr
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1274G>A
  hgvsp: ENSP00000430900.1:p.Cys425Tyr
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1274G>A
  hgvsp: ENSP00000347281.1:p.Cys425Tyr
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1274G>A
  hgvsp: ENSP00000379318.1:p.Cys425Tyr
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6155
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys425Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

8-100146927-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146927
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146927
    reference: chr 8
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1274G>T
  hgvsp: ENSP00000347281.1:p.Cys425Phe
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1274G>T
  hgvsp: ENSP00000349685.2:p.Cys425Phe
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1274G>T
  hgvsp: ENSP00000430900.1:p.Cys425Phe
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1274G>T
  hgvsp: ENSP00000379318.1:p.Cys425Phe
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1274G>T
  hgvsp: ENSP00000351346.2:p.Cys425Phe
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys425Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-100146934-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146934
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146934
    reference: chr 8
allele count: 1
allele frequency: 8.273899157717065e-6
allele num: 120862
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1281A>G
  hgvsp: ENST00000358544.2:c.1281A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1281A>G
  hgvsp: ENST00000395996.1:c.1281A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1281A>G
  hgvsp: ENST00000496144.1:c.1281A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1281A>G
  hgvsp: ENST00000355155.1:c.1281A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1281A>G
  hgvsp: ENST00000357162.2:c.1281A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu427Glu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

8-100146942-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146942
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146942
    reference: chr 8
allele count: 22
allele frequency: 1.821131750604285e-4
allele num: 120804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1289G>C
  hgvsp: ENSP00000347281.1:p.Gly430Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1289G>C
  hgvsp: ENSP00000349685.2:p.Gly430Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1289G>C
  hgvsp: ENSP00000351346.2:p.Gly430Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1289G>C
  hgvsp: ENSP00000430900.1:p.Gly430Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1289G>C
  hgvsp: ENSP00000379318.1:p.Gly430Ala
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34442
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly430Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

8-100146944-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146944
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146944
    reference: chr 8
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1291A>G
  hgvsp: ENSP00000347281.1:p.Thr431Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1291A>G
  hgvsp: ENSP00000349685.2:p.Thr431Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1291A>G
  hgvsp: ENSP00000351346.2:p.Thr431Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1291A>G
  hgvsp: ENSP00000430900.1:p.Thr431Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1291A>G
  hgvsp: ENSP00000379318.1:p.Thr431Ala
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr431Ala
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

8-100146946-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146946
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146946
    reference: chr 8
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1293T>A
  hgvsp: ENST00000496144.1:c.1293T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1293T>A
  hgvsp: ENST00000395996.1:c.1293T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1293T>A
  hgvsp: ENST00000355155.1:c.1293T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1293T>A
  hgvsp: ENST00000357162.2:c.1293T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1293T>A
  hgvsp: ENST00000358544.2:c.1293T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr431Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-100146946-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146946
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146946
    reference: chr 8
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1293T>C
  hgvsp: ENST00000355155.1:c.1293T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1293T>C
  hgvsp: ENST00000357162.2:c.1293T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1293T>C
  hgvsp: ENST00000358544.2:c.1293T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1293T>C
  hgvsp: ENST00000395996.1:c.1293T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1293T>C
  hgvsp: ENST00000496144.1:c.1293T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr431Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-100146946-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146946
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146946
    reference: chr 8
allele count: 473
allele frequency: 3.916405848940997e-3
allele num: 120774
alternate allele: G
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1293T>G
  hgvsp: ENST00000358544.2:c.1293T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1293T>G
  hgvsp: ENST00000357162.2:c.1293T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1293T>G
  hgvsp: ENST00000395996.1:c.1293T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1293T>G
  hgvsp: ENST00000355155.1:c.1293T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1293T>G
  hgvsp: ENST00000496144.1:c.1293T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 34120
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 9.75e1
  variant carriers: 462
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr431Thr
num of homozygotes: 10
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

8-100146949-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146949
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146949
    reference: chr 8
allele count: 3
allele frequency: 2.485089463220676e-5
allele num: 120720
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1296A>G
  hgvsp: ENST00000358544.2:c.1296A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1296A>G
  hgvsp: ENST00000357162.2:c.1296A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1296A>G
  hgvsp: ENST00000496144.1:c.1296A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1296A>G
  hgvsp: ENST00000395996.1:c.1296A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1296A>G
  hgvsp: ENST00000355155.1:c.1296A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr432Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

8-100146951-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100146951
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100146951
    reference: chr 8
allele count: 2
allele frequency: 1.657165583985152e-5
allele num: 120688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.1298T>C
  hgvsp: ENSP00000349685.2:p.Val433Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000347281
  ensembl transcript: ENST00000355155
  gene symbol: VPS13B
  hgvsc: ENST00000355155.1:c.1298T>C
  hgvsp: ENSP00000347281.1:p.Val433Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.1298T>C
  hgvsp: ENSP00000351346.2:p.Val433Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.1298T>C
  hgvsp: ENSP00000379318.1:p.Val433Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000430900
  ensembl transcript: ENST00000496144
  gene symbol: VPS13B
  hgvsc: ENST00000496144.1:c.1298T>C
  hgvsp: ENSP00000430900.1:p.Val433Ala
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val433Ala
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2213
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2043
bin: 9.75e1
variant carriers: 66

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

GenotypeQuality
all individuals: 620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 2.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 53
allele frequency: 8.09481626294407e-4
allele num: 65474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.152891096133381e-3
allele num: 11276
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.446816e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.78e0

QD
type: SiteQuality
SIO_000300: 1.294e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 195
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.858965272856131e-5
allele num: 11288
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.863e1

FS
type: SiteQuality
SIO_000300: 5.955e0

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.21e-1

DP
type: SiteQuality
SIO_000300: 1.44855e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

VQSLOD
type: SiteQuality
SIO_000300: -1.922e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

QD
type: SiteQuality
SIO_000300: 8.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.32e-1

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44010
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1573
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2053
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1833
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66040
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.934984520123839e-4
allele num: 10336
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.642240620045799e-4
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.43e-1

DP
type: SiteQuality
SIO_000300: 1.462584e6

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43901
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.756543123133673e-4
allele num: 11386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66196
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

FS
type: SiteQuality
SIO_000300: 3.189e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.06e0

DP
type: SiteQuality
SIO_000300: 1.469156e6

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

GenotypeQuality
all individuals: 43889
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 529
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1892
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1608
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.525785779676533e-4
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.020235578375113e-4
allele num: 66220
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.75e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

DP
type: SiteQuality
SIO_000300: 1.47072e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

FS
type: SiteQuality
SIO_000300: 2.074e0

QD
type: SiteQuality
SIO_000300: 1.612e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2536
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1738
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6085
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

QD
type: SiteQuality
SIO_000300: 1.695e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.73e0

DP
type: SiteQuality
SIO_000300: 1.483773e6

GenotypeQuality
all individuals: 2149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2560
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6141
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 9.25e1
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: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.437e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.092e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.115e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

QD
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

DP
type: SiteQuality
SIO_000300: 1.487238e6

VQSLOD
type: SiteQuality
SIO_000300: -4.58e-1

GenotypeQuality
all individuals: 43931
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6233
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
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: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.301e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 2.881e0

QD
type: SiteQuality
SIO_000300: 1.021e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.268e0

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.49841e6

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

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 9.75e1
variant carriers: 46

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 6.596503852957932e-4
allele num: 66702
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.228e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
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SIO_000300: 5.26e-1

VQSLOD
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BaseQRankSum
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SIO_000300: -1.841e0

DP
type: SiteQuality
SIO_000300: 1.501127e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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MQRankSum
type: SiteQuality
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DP
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QD
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FS
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11540
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
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ClippingRankSum
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InbreedingCoeff
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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QD
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ReadPosRankSum
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SIO_000300: -6.820000000000001e-1

MQRankSum
type: SiteQuality
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MQ
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
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allele count: 43
allele frequency: 3.724878724878725e-3
allele num: 11544
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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SIO_000300: -3.03e-1

VQSLOD
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QD
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DP
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SIO_000300: 1.505472e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11542
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Other
type: Population
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BaseQRankSum
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SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

FS
type: SiteQuality
SIO_000300: 3.432e0

QD
type: SiteQuality
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DP
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SIO_000300: 1.504447e6

VQSLOD
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SIO_000300: 1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.921968095329617e-4
allele num: 10406
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

MQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16510
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African
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Latino
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Other
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MQ
type: SiteQuality
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DP
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MQRankSum
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ClippingRankSum
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QD
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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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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European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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African
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Latino
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South Asian
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East Asian
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Other
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DP
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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MQ
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QD
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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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Other
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East Asian
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European (Finnish)
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South Asian
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African
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Latino
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European (Non-Finnish)
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VQSLOD
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DP
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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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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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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Latino
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Other
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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African
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East Asian
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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FS
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QD
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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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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Other
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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East Asian
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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QD
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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South Asian
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East Asian
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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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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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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DP
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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East Asian
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQ
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 66728
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.50655e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e0

FS
type: SiteQuality
SIO_000300: 8.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.812e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
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SIO_000300: 1.514e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: -2.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 1.50665e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.046e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

FS
type: SiteQuality
SIO_000300: 5.448e0

QD
type: SiteQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

InbreedingCoeff
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SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.506732e6

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

FS
type: SiteQuality
SIO_000300: 1.326e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

QD
type: SiteQuality
SIO_000300: 1.251e1

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

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

African
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allele count: 6
allele frequency: 5.773672055427252e-4
allele num: 10392
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: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.935e1

FS
type: SiteQuality
SIO_000300: 2.563e0

QD
type: SiteQuality
SIO_000300: 1.077e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.5061e6

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

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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bin: 9.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.85e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.003e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.773e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 1.505684e6

FS
type: SiteQuality
SIO_000300: 1.3937e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-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
all individuals: 1887
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 1.791e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

QD
type: SiteQuality
SIO_000300: 1.104e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 1.505194e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
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FS
type: SiteQuality
SIO_000300: 6.422e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.501596e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

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

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

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.85e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 1880
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variant carriers: 0

European (Finnish)
type: Population
allele count: 82
allele frequency: 1.240169388989716e-2
allele num: 6612
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
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Latino
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 41
allele frequency: 6.153753789811785e-4
allele num: 66626
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.504984e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ClippingRankSum
type: SiteQuality
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MQ
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VQSLOD
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 8.699999999999999e-3

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6060
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
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South Asian
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East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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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
all individuals: 745
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.502448991856727e-4
allele num: 66558
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 4.307e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

DP
type: SiteQuality
SIO_000300: 1.494544e6

GenotypeQuality
all individuals: 626
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 314
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.721952167995334e-5
allele num: 10286
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.657e-1

FS
type: SiteQuality
SIO_000300: 6.536e0

MQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

DP
type: SiteQuality
SIO_000300: 1.495249e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
all individuals: 152
bin: 2.25e1
variant carriers: 44

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 85

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 20

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 321
bin: 7.25e1
variant carriers: 235

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 517

GenotypeQuality
all individuals: 186
bin: 5.75e1
variant carriers: 179

GenotypeQuality
all individuals: 788
bin: 6.75e1
variant carriers: 462

Latino
type: Population
allele count: 5690
allele frequency: 4.938378753688596e-1
allele num: 11522
num of homozygotes: 1470

African
type: Population
allele count: 7050
allele frequency: 6.864654333008764e-1
allele num: 10270
num of homozygotes: 2427

South Asian
type: Population
allele count: 14302
allele frequency: 8.688942891859053e-1
allele num: 16460
num of homozygotes: 6199

East Asian
type: Population
allele count: 4713
allele frequency: 5.476411805716942e-1
allele num: 8606
num of homozygotes: 1289

Other
type: Population
allele count: 679
allele frequency: 7.561247216035635e-1
allele num: 898
num of homozygotes: 262

European (Non-Finnish)
type: Population
allele count: 53073
allele frequency: 7.979702300405954e-1
allele num: 66510
num of homozygotes: 21188

European (Finnish)
type: Population
allele count: 5165
allele frequency: 7.856708244599939e-1
allele num: 6574
num of homozygotes: 2028

FS
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 4.598377e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.53e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 2.876e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

GenotypeQuality
all individuals: 2296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2782
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523832744118006e-5
allele num: 65624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.27e-1

FS
type: SiteQuality
SIO_000300: 7.33e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 2.04823e6

GenotypeQuality
all individuals: 1403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3151
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535060788407221e-5
allele num: 65144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.255e0

MQRankSum
type: SiteQuality
SIO_000300: -1.841e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 6.825e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.255e0

DP
type: SiteQuality
SIO_000300: 2.014628e6

VQSLOD
type: SiteQuality
SIO_000300: -1.389e0

QD
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 4.381e1

GenotypeQuality
all individuals: 4685
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8132
bin: 9.75e1
variant carriers: 5

South Asian
type: Population
allele count: 5
allele frequency: 3.545596369309318e-4
allele num: 14102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64826
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.996205e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

GenotypeQuality
all individuals: 2229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8117
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7205
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.239032865209208e-5
allele num: 13814
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64610
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.082e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e-1

FS
type: SiteQuality
SIO_000300: 3.452e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.979251e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 495
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8117
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1406
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7164
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5500031000062e-5
allele num: 64516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13720
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.631e0

QD
type: SiteQuality
SIO_000300: 3.323e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.970888e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8114
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2208
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7130
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.778089887640449e-5
allele num: 11392
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64466
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.605e0

DP
type: SiteQuality
SIO_000300: 1.967447e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.805e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
SIO_000300: 1.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

GenotypeQuality
all individuals: 5743
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8103
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21404
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571388164304346e-5
allele num: 63638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.915e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

DP
type: SiteQuality
SIO_000300: 1.874352e6

QD
type: SiteQuality
SIO_000300: 9.25e0

GenotypeQuality
all individuals: 172
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.256281407035176e-3
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.458030824098841e-4
allele num: 62808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 38
allele frequency: 5.78386605783866e-3
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

DP
type: SiteQuality
SIO_000300: 1.792367e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

QD
type: SiteQuality
SIO_000300: 1.794e1

VQSLOD
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 1.387e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

GenotypeQuality
all individuals: 4939
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4069
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13654
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 9.25e1
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GenotypeQuality
all individuals: 2721
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.96700143472023e-5
allele num: 11152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.044e1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

DP
type: SiteQuality
SIO_000300: 1.78799e6

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

GenotypeQuality
all individuals: 3890
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 445
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GenotypeQuality
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bin: 9.75e1
variant carriers: 10

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57168
num of homozygotes: 0

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

Latino
type: Population
allele count: 10
allele frequency: 9.319664492078285e-4
allele num: 10730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.584e1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

DP
type: SiteQuality
SIO_000300: 1.362249e6

GenotypeQuality
all individuals: 439
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1121
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.750700280112045e-4
allele num: 5712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57152
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.369648e6

VQSLOD
type: SiteQuality
SIO_000300: -3.572e0

QD
type: SiteQuality
SIO_000300: 3.233e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3540
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variant carriers: 0

GenotypeQuality
all individuals: 26831
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57650
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.603275224511358e-5
allele num: 15144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.937e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.42949e6

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.906e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57726
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15164
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.176747469992939e-4
allele num: 8498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

FS
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.088e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.43917e6

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 1890
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variant carriers: 0

GenotypeQuality
all individuals: 28569
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GenotypeQuality
all individuals: 643
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GenotypeQuality
all individuals: 1022
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.72962501729625e-5
allele num: 57816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10840
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15170
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 2.688e1

VQSLOD
type: SiteQuality
SIO_000300: -2.309e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 4.127e0

DP
type: SiteQuality
SIO_000300: 1.4467e6

MQRankSum
type: SiteQuality
SIO_000300: 2.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 417
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variant carriers: 0

GenotypeQuality
all individuals: 652
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 359
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GenotypeQuality
all individuals: 1597
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.250312578144536e-4
allele num: 7998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15564
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.615e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.097e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.11e-1

DP
type: SiteQuality
SIO_000300: 1.53594e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

QD
type: SiteQuality
SIO_000300: 1.688e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39821
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.615143586264819e-5
allele num: 61914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9222
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.678e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.455e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.335e0

MQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

QD
type: SiteQuality
SIO_000300: 8.029999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.229407425620851e-4
allele num: 16268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544258447093706e-5
allele num: 64756
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.191029900332226e-4
allele num: 9632
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

QD
type: SiteQuality
SIO_000300: 1.643e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

DP
type: SiteQuality
SIO_000300: 1.628114e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 655
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GenotypeQuality
all individuals: 60
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65766
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.788890841975742e-5
allele num: 11378
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
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African
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allele count: 0
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allele num: 9774
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

DP
type: SiteQuality
SIO_000300: 1.642848e6

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.738e0

MQ
type: SiteQuality
SIO_000300: 5.857e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.577e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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
allele num: 9898
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53802868034126e-5
allele num: 66108
num of homozygotes: 0

East Asian
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allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

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

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

FS
type: SiteQuality
SIO_000300: 3.292e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.314e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

DP
type: SiteQuality
SIO_000300: 1.650347e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507886245061673e-5
allele num: 66318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.242e0

QD
type: SiteQuality
SIO_000300: 1.369e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.286e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.655049e6

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 123
allele frequency: 1.851405864290445e-3
allele num: 66436
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.668689320388349e-3
allele num: 6592
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.691117677733357e-4
allele num: 11506
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.820830298616169e-4
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.953125e-4
allele num: 10240
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

DP
type: SiteQuality
SIO_000300: 1.66718e6

QD
type: SiteQuality
SIO_000300: 1.091e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.75e0

QD
type: SiteQuality
SIO_000300: 1.409e1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.823e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 9.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.660499e6

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 7.301e0

QD
type: SiteQuality
SIO_000300: 1.381e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

DP
type: SiteQuality
SIO_000300: 1.660612e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.164e0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3626
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6155
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.660612e6

QD
type: SiteQuality
SIO_000300: 1.381e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.164e0

FS
type: SiteQuality
SIO_000300: 7.301e0

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45228
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1052
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.721952167995334e-5
allele num: 10286
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0109e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.66e0

QD
type: SiteQuality
SIO_000300: 1.192e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.065e0

VQSLOD
type: SiteQuality
SIO_000300: 2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.660226e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45120
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1049
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.161032001685884e-4
allele num: 66434
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

FS
type: SiteQuality
SIO_000300: 2.211e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.317e1

DP
type: SiteQuality
SIO_000300: 1.660333e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

GenotypeQuality
all individuals: 45052
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505797319680771e-5
allele num: 66410
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

DP
type: SiteQuality
SIO_000300: 1.658896e6

QD
type: SiteQuality
SIO_000300: 1.108e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: -1.202e0

MQ
type: SiteQuality
SIO_000300: 5.734e1

FS
type: SiteQuality
SIO_000300: 4.959e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3996
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6077
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505797319680771e-5
allele num: 66410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.680599e6

QD
type: SiteQuality
SIO_000300: 1.438e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

FS
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

GenotypeQuality
all individuals: 6077
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44828
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

FS
type: SiteQuality
SIO_000300: 6.75e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 1.680599e6

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

QD
type: SiteQuality
SIO_000300: 1.438e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-2

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

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

African
type: Population
allele count: 429
allele frequency: 4.173151750972762e-2
allele num: 10280
num of homozygotes: 10

Latino
type: Population
allele count: 34
allele frequency: 2.958579881656805e-3
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.034783918084625e-5
allele num: 66410
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.325942350332594e-3
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.680599e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 6.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

QD
type: SiteQuality
SIO_000300: 1.438e1

GenotypeQuality
all individuals: 3580
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44955
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.519569736961041e-5
allele num: 66378
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

QD
type: SiteQuality
SIO_000300: 1.262e1

DP
type: SiteQuality
SIO_000300: 1.658972e6