8-100883890-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883890
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883890
    reference: chr 8
allele count: 14
allele frequency: 1.153250518962734e-4
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1287C>G
  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.11710C>G
  hgvsp: ENSP00000349685.2:p.Gln3904Glu
  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.11785C>G
  hgvsp: ENSP00000351346.2:p.Gln3929Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7568C>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30509
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55456
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln3929Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-100883895-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883895
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883895
    reference: chr 8
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7573C>A
  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.11790C>A
  hgvsp: ENST00000358544.2:c.11790C>A(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.11715C>A
  hgvsp: ENST00000357162.2:c.11715C>A(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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1292C>A
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30501
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55456
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu3930Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

8-100883898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883898
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883898
    reference: chr 8
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1295G>A
  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.11793G>A
  hgvsp: ENST00000358544.2:c.11793G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7576G>A
  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.11718G>A
  hgvsp: ENST00000357162.2:c.11718G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30501
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys3931Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-100883903-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883903
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883903
    reference: chr 8
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1300C>G
  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.11723C>G
  hgvsp: ENSP00000349685.2:p.Pro3908Arg
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7581C>G
  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.11798C>G
  hgvsp: ENSP00000351346.2:p.Pro3933Arg
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30501
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro3933Arg
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

8-100883921-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883921
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883921
    reference: chr 8
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11816T>G
  hgvsp: ENSP00000351346.2:p.Val3939Gly
  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.11741T>G
  hgvsp: ENSP00000349685.2:p.Val3914Gly
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7599T>G
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1318T>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30500
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55457
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val3939Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-100883923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883923
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883923
    reference: chr 8
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11818G>A
  hgvsp: ENSP00000351346.2:p.Glu3940Lys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7601G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11743G>A
  hgvsp: ENSP00000349685.2:p.Glu3915Lys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1320G>A
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30500
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu3940Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

8-100883929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883929
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883929
    reference: chr 8
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1322+4C>T
  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.*7603+4C>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.11820+4C>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.11745+4C>T
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30499
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55457
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
hgvs: c.11820+4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

8-100883938-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883938
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883938
    reference: chr 8
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
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.11745+13A>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.11820+13A>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.*7603+13A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1322+13A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30498
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55457
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-100883949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883949
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883949
    reference: chr 8
allele count: 3
allele frequency: 2.474185992808366e-5
allele num: 121252
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.11745+24C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1322+24C>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.11820+24C>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.*7603+24C>T
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30498
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55457
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-100883950-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883950
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883950
    reference: chr 8
allele count: 3
allele frequency: 2.474430880897394e-5
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11820+25C>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.11745+25C>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.*7603+25C>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1322+25C>A
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30497
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55459
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

8-100883950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883950
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883950
    reference: chr 8
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
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.11745+25C>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.11820+25C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1322+25C>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.*7603+25C>T
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30497
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 459
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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: 28
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 160
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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: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-100883951-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883951
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883951
    reference: chr 8
allele count: 2
allele frequency: 1.649593375233005e-5
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1322+26A>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.11820+26A>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.*7603+26A>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.11745+26A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30497
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55457
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

8-100883952-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883952
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883952
    reference: chr 8
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
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.*7603+27A>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.11820+27A>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.11745+27A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1322+27A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30496
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

8-100883955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883955
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883955
    reference: chr 8
allele count: 3
allele frequency: 2.474553343121567e-5
allele num: 121234
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.11745+30C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1322+30C>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.*7603+30C>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.11820+30C>T
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30497
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

8-100883971-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883971
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883971
    reference: chr 8
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7603+46G>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1322+46G>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.11820+46G>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.11745+46G>T
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30494
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

8-100883972-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883972
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883972
    reference: chr 8
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
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.11745+47T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1322+47T>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.11820+47T>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.*7603+47T>C
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

8-100883973-TGAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100883973
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100883970
    reference: chr 8
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1322+52_1322+54delGAG
  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.*7603+52_*7603+54delGAG
  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.11820+52_11820+54delGAG
  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.11745+52_11745+54delGAG
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: TGAG
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

8-100887598-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887598
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887598
    reference: chr 8
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
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.11821-48A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2077T>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-48A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-278T>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7604-48A>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.11746-48A>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-100887601-CTCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887601
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887598
    reference: chr 8
allele count: 21
allele frequency: 1.734505087881591e-4
allele num: 121072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2083_*142-2081delCGA
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11821-43_11821-41delCGT
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-284_*142-282delCGA
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11746-43_11746-41delCGT
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-43_1323-41delCGT
  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.*7604-43_*7604-41delCGT
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: CTCG
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

8-100887603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887603
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887603
    reference: chr 8
allele count: 18
allele frequency: 1.48720999405116e-4
allele num: 121032
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.11746-43C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2082G>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7604-43C>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.11821-43C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-43C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-283G>A
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11849
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

8-100887604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887604
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887604
    reference: chr 8
allele count: 4
allele frequency: 3.304474258145529e-5
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-42G>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.*7604-42G>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.11746-42G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-284C>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2083C>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11821-42G>A
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11833
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-100887604-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887604
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887604
    reference: chr 8
allele count: 2
allele frequency: 1.652237129072764e-5
allele num: 121048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-42G>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.*7604-42G>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-284C>G
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2083C>G
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11746-42G>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.11821-42G>C
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11833
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-100887608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887608
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887608
    reference: chr 8
allele count: 2
allele frequency: 1.651473114017704e-5
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2087C>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-288C>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11746-38G>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.*7604-38G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-38G>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.11821-38G>A
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

8-100887609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887609
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887609
    reference: chr 8
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
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.*7604-37G>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.11746-37G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-37G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-289C>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2088C>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11821-37G>A
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/8-100887612-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887612
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887613
    reference: chr 8
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11746-34_11746-33insA
  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.11821-34_11821-33insA
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-293_*142-292insT
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-34_1323-33insA
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2092_*142-2091insT
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7604-34_*7604-33insA
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

8-100887622-A-ATCTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887622
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887626
    reference: chr 8
allele count: 3
allele frequency: 2.475778632379884e-5
allele num: 121174
alternate allele: ATCTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-22_1323-19dupCTTT
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2105_*142-2102dupAAGA
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7604-22_*7604-19dupCTTT
  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.11746-22_11746-19dupCTTT
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-306_*142-303dupAAGA
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11821-22_11821-19dupCTTT
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11832
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

8-100887623-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887623
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887623
    reference: chr 8
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
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.11821-23T>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.*7604-23T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-23T>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.11746-23T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2102A>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-303A>C
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5078
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

8-100887634-T-TTTGGATCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887634
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887642
    reference: chr 8
allele count: 3
allele frequency: 2.474022761009401e-5
allele num: 121260
alternate allele: TTTGGATCC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11821-10_11821-3dupTGGATCCT
  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.*7604-10_*7604-3dupTGGATCCT
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11746-10_11746-3dupTGGATCCT
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-10_1323-3dupTGGATCCT
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

8-100887640-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887640
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887640
    reference: chr 8
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-6T>G
  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.11746-6T>G
  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.11821-6T>G
  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.*7604-6T>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-320A>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2119A>C
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: c.11821-6T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-100887643-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887643
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887643
    reference: chr 8
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-3T>C
  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.*7604-3T>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.11746-3T>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.11821-3T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2122A>G
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-323A>G
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11828
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  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: 5083
  bin: 7.75e1
  variant carriers: 0
hgvs: c.11821-3T>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-100887645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887645
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887645
    reference: chr 8
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11746-1G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2124C>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11821-1G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7604-1G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1323-1G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-325C>T
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: c.11821-1G>A
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

8-100887648-A-AGAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887648
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887651
    reference: chr 8
allele count: 53
allele frequency: 4.366380517704437e-4
allele num: 121382
alternate allele: AGAT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-331_*142-329dupATC
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11750_11752dupATG
  hgvsp: ENSP00000349685.2:p.Asp3917dup
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7608_*7610dupATG
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1327_1329dupATG
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11825_11827dupATG
  hgvsp: ENSP00000351346.2:p.Asp3942dup
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2130_*142-2128dupATC
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp3942dup
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

8-100887650-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887650
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887650
    reference: chr 8
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7608A>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2129T>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11825A>T
  hgvsp: ENSP00000351346.2:p.Asp3942Val
  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.11750A>T
  hgvsp: ENSP00000349685.2:p.Asp3917Val
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-330T>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1327A>T
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11788
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp3942Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

8-100887657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887657
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887657
    reference: chr 8
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11832C>T
  hgvsp: ENST00000358544.2:c.11832C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2136G>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-337G>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7615C>T
  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.11757C>T
  hgvsp: ENST00000357162.2:c.11757C>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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1334C>T
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5090
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val3944Val
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

8-100887658-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887658
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887658
    reference: chr 8
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2137G>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-338G>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11758C>T
  hgvsp: ENSP00000349685.2:p.Arg3920Ter
  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.11833C>T
  hgvsp: ENSP00000351346.2:p.Arg3945Ter
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7616C>T
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1335C>T
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11782
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg3945Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

8-100887658-CGAGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887658
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887654
    reference: chr 8
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7621_*7624delGAGA
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-342_*142-339delTCTC
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2141_*142-2138delTCTC
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11838_11841delGAGA
  hgvsp: ENSP00000351346.2:p.Glu3946AspfsTer66
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1340_1343delGAGA
  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.11763_11766delGAGA
  hgvsp: ENSP00000349685.2:p.Glu3921AspfsTer66
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11782
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu3946AspfsTer66
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: CGAGA
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

8-100887659-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887659
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887659
    reference: chr 8
allele count: 11
allele frequency: 9.060955518945634e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2138C>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1336G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-339C>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7617G>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.11834G>A
  hgvsp: ENSP00000351346.2:p.Arg3945Gln
  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.11759G>A
  hgvsp: ENSP00000349685.2:p.Arg3920Gln
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11782
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5090
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg3945Gln
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

8-100887669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887669
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887669
    reference: chr 8
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-349C>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11844G>A
  hgvsp: ENST00000358544.2:c.11844G>A(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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1346G>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2148C>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7627G>A
  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.11769G>A
  hgvsp: ENST00000357162.2:c.11769G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9944
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu3948Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-100887669-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887669
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887669
    reference: chr 8
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-349C>G
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11844G>C
  hgvsp: ENST00000358544.2:c.11844G>C(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.11769G>C
  hgvsp: ENST00000357162.2:c.11769G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7627G>C
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1346G>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2148C>G
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu3948Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

8-100887671-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887671
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887669
    reference: chr 8
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1351_1352delAG
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2152_*142-2151delCT
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7632_*7633delAG
  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.11774_11775delAG
  hgvsp: ENSP00000349685.2:p.Glu3925AlafsTer41
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-353_*142-352delCT
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11849_11850delAG
  hgvsp: ENSP00000351346.2:p.Glu3950AlafsTer41
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11768
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23244
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu3950AlafsTer41
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: CAG
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

8-100887680-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887680
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887679
    reference: chr 8
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1358delG
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7639delG
  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.11781delG
  hgvsp: ENSP00000349685.2:p.Gln3927HisfsTer61
  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
  hgvsc: ENST00000358544.2:c.11856delG
  hgvsp: ENSP00000351346.2:p.Gln3952HisfsTer61
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-361delC
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2160delC
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11767
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln3952HisfsTer61
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: AG
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

8-100887687-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887687
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887687
    reference: chr 8
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-367G>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1364C>G
  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.11787C>G
  hgvsp: ENSP00000349685.2:p.Asn3929Lys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2166G>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7645C>G
  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.11862C>G
  hgvsp: ENSP00000351346.2:p.Asn3954Lys
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn3954Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

8-100887687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887687
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887687
    reference: chr 8
allele count: 44
allele frequency: 3.624441918318259e-4
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11862C>T
  hgvsp: ENST00000358544.2:c.11862C>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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1364C>T
  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.11787C>T
  hgvsp: ENST00000357162.2:c.11787C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7645C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-367G>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2166G>A
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17888
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn3954Asn
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

8-100887709-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887709
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887709
    reference: chr 8
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11809A>G
  hgvsp: ENSP00000349685.2:p.Lys3937Glu
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1386A>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-389T>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7667A>G
  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.11884A>G
  hgvsp: ENSP00000351346.2:p.Lys3962Glu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2188T>C
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11726
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23277
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys3962Glu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

8-100887715-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887715
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887715
    reference: chr 8
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2194A>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-395A>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11890T>G
  hgvsp: ENSP00000351346.2:p.Ser3964Ala
  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.11815T>G
  hgvsp: ENSP00000349685.2:p.Ser3939Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7673T>G
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1392T>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11725
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser3964Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

8-100887719-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887719
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887719
    reference: chr 8
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11819G>T
  hgvsp: ENSP00000349685.2:p.Cys3940Phe
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7677G>T
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1396G>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-399C>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11894G>T
  hgvsp: ENSP00000351346.2:p.Cys3965Phe
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2198C>A
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11725
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9951
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys3965Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

8-100887727-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887727
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887728
    reference: chr 8
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-408dupG
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11832dupC
  hgvsp: ENSP00000349685.2:p.Ser3945GlnfsTer22
  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
  hgvsc: ENST00000358544.2:c.11907dupC
  hgvsp: ENSP00000351346.2:p.Ser3970GlnfsTer22
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1409dupC
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7690dupC
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2207dupG
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9952
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11725
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser3970GlnfsTer22
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/8-100887730-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887730
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887730
    reference: chr 8
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
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.11830C>A
  hgvsp: ENSP00000349685.2:p.Pro3944Thr
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-410G>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7688C>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2209G>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11905C>A
  hgvsp: ENSP00000351346.2:p.Pro3969Thr
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1407C>A
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro3969Thr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/8-100887730-CCCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887730
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887727
    reference: chr 8
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-413_*142-411delTGG
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11906_11908delCCA
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2212_*142-2210delTGG
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7689_*7691delCCA
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1408_1410delCCA
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11831_11833delCCA
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11725
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro3969_Ser3970delinsArg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: CCCA
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

8-100887734-GCTGTTCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887734
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887727
    reference: chr 8
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1412_1418delCTGTTCT
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_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: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsp: ENSP00000349685.2:p.Cys3946ProfsTer40
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsp: ENSP00000351346.2:p.Cys3971ProfsTer40
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11724
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys3971ProfsTer40
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: GCTGTTCT
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

8-100887738-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887738
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887738
    reference: chr 8
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11838T>C
  hgvsp: ENST00000357162.2:c.11838T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-418A>G
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11913T>C
  hgvsp: ENST00000358544.2:c.11913T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7696T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2217A>G
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1415T>C
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  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: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9952
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys3971Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

8-100887745-ATGCAAATACCATGCCCTGTGGTGGCTGCAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887745
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887715
    reference: chr 8
allele count: 5
allele frequency: 4.118480445454845e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_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: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5094
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11720
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met3974_Glu3984delinsLys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: ATGCAAATACCATGCCCTGTGGTGGCTGCAG
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

8-100887746-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887746
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887746
    reference: chr 8
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11921T>G
  hgvsp: ENSP00000351346.2:p.Met3974Arg
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-426A>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1423T>G
  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.11846T>G
  hgvsp: ENSP00000349685.2:p.Met3949Arg
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2225A>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7704T>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5094
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met3974Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-100887751-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887751
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887751
    reference: chr 8
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7709A>C
  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.11851A>C
  hgvsp: ENSP00000349685.2:p.Ile3951Leu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2230T>G
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11926A>C
  hgvsp: ENSP00000351346.2:p.Ile3976Leu
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1428A>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-431T>G
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11720
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile3976Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

8-100887752-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887752
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887752
    reference: chr 8
allele count: 26
allele frequency: 2.141609831636519e-4
allele num: 121404
alternate allele: C
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.11852T>C
  hgvsp: ENSP00000349685.2:p.Ile3951Thr
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7710T>C
  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.11927T>C
  hgvsp: ENSP00000351346.2:p.Ile3976Thr
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1429T>C
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2231A>G
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-432A>G
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile3976Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

8-100887754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887754
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887754
    reference: chr 8
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7712C>T
  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.11854C>T
  hgvsp: ENSP00000349685.2:p.Pro3952Ser
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2233G>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11929C>T
  hgvsp: ENSP00000351346.2:p.Pro3977Ser
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1431C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-434G>A
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro3977Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

8-100887762-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887762
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887762
    reference: chr 8
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
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.11937T>G
  hgvsp: ENST00000358544.2:c.11937T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2241A>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-442A>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7720T>G
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1439T>G
  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.11862T>G
  hgvsp: ENST00000357162.2:c.11862T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro3979Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-100887777-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887777
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887777
    reference: chr 8
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-457T>G
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2256T>G
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7735A>C
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1454A>C
  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.11952A>C
  hgvsp: ENSP00000351346.2:p.Glu3984Asp
  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.11877A>C
  hgvsp: ENSP00000349685.2:p.Glu3959Asp
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11696
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  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: 9942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu3984Asp
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

8-100887781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887781
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887781
    reference: chr 8
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2260G>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11956C>T
  hgvsp: ENSP00000351346.2:p.Pro3986Ser
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-461G>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11881C>T
  hgvsp: ENSP00000349685.2:p.Pro3961Ser
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7739C>T
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1458C>T
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro3986Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum

8-100887782-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887782
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887782
    reference: chr 8
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2261G>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11957C>G
  hgvsp: ENSP00000351346.2:p.Pro3986Arg
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-462G>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7740C>G
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1459C>G
  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.11882C>G
  hgvsp: ENSP00000349685.2:p.Pro3961Arg
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17948
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5089
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro3986Arg
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-100887782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887782
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887782
    reference: chr 8
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
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.11957C>T
  hgvsp: ENSP00000351346.2:p.Pro3986Leu
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1459C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7740C>T
  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.11882C>T
  hgvsp: ENSP00000349685.2:p.Pro3961Leu
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-462G>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2261G>A
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro3986Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

8-100887783-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887783
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887783
    reference: chr 8
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2262G>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11883C>G
  hgvsp: ENST00000357162.2:c.11883C>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.11958C>G
  hgvsp: ENST00000358544.2:c.11958C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7741C>G
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1460C>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-463G>C
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11689
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5089
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro3986Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

8-100887784-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887784
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887784
    reference: chr 8
allele count: 90
allele frequency: 7.413753336189001e-4
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-464G>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11959C>G
  hgvsp: ENSP00000351346.2:p.Pro3987Ala
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1461C>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2263G>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11884C>G
  hgvsp: ENSP00000349685.2:p.Pro3962Ala
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7742C>G
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5089
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  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
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9947
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro3987Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

8-100887784-CCCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887784
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887781
    reference: chr 8
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11887_11889delTCC
  hgvsp: ENSP00000349685.2:p.Ser3963del
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-467_*142-465delAGG
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2266_*142-2264delAGG
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1464_1466delTCC
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11962_11964delTCC
  hgvsp: ENSP00000351346.2:p.Ser3988del
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7745_*7747delTCC
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11694
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5089
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser3988del
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: CCCT
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/8-100887785-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887785
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887785
    reference: chr 8
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
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.11885C>A
  hgvsp: ENSP00000349685.2:p.Pro3962His
  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.11960C>A
  hgvsp: ENSP00000351346.2:p.Pro3987His
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1462C>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7743C>A
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-465G>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2264G>T
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23360
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro3987His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

8-100887785-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887785
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887785
    reference: chr 8
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1462C>G
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2264G>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11885C>G
  hgvsp: ENSP00000349685.2:p.Pro3962Arg
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7743C>G
  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.11960C>G
  hgvsp: ENSP00000351346.2:p.Pro3987Arg
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-465G>C
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro3987Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

8-100887786-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887786
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887786
    reference: chr 8
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1463C>G
  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.11886C>G
  hgvsp: ENST00000357162.2:c.11886C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7744C>G
  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.11961C>G
  hgvsp: ENST00000358544.2:c.11961C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2265G>C
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-466G>C
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11614
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro3987Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

8-100887789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887789
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887789
    reference: chr 8
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7747C>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-469G>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1466C>T
  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.11889C>T
  hgvsp: ENST00000357162.2:c.11889C>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.11964C>T
  hgvsp: ENST00000358544.2:c.11964C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2268G>A
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  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
hgvs: p.Ser3988Ser
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-100887792-T-TGTTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887792
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887796
    reference: chr 8
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: TGTTA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11968_11971dupGTTA
  hgvsp: ENSP00000351346.2:p.Lys3991SerfsTer2
  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.11893_11896dupGTTA
  hgvsp: ENSP00000349685.2:p.Lys3966SerfsTer2
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2275_*142-2272dupTAAC
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-476_*142-473dupTAAC
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1470_1473dupGTTA
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7751_*7754dupGTTA
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys3991SerfsTer2
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-100887797-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887797
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887797
    reference: chr 8
allele count: 32
allele frequency: 2.636001186200534e-4
allele num: 121396
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.11972A>T
  hgvsp: ENSP00000351346.2:p.Lys3991Ile
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7755A>T
  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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1474A>T
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-477T>A
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11897A>T
  hgvsp: ENSP00000349685.2:p.Lys3966Ile
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2276T>A
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 7.75e1
  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: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11609
  bin: 9.75e1
  variant carriers: 32
hgvs: p.Lys3991Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/8-100887800-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887800
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887800
    reference: chr 8
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1477C>A
  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.11900C>A
  hgvsp: ENSP00000349685.2:p.Thr3967Lys
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2279G>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-480G>T
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7758C>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.11975C>A
  hgvsp: ENSP00000351346.2:p.Thr3992Lys
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9958
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5096
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr3992Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

8-100887803-ACCATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887803
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887798
    reference: chr 8
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-488_*142-484delAATGG
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132549
  ensembl transcript: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1481_1485delCCATT
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7762_*7766delCCATT
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000351346
  ensembl transcript: ENST00000358544
  gene symbol: VPS13B
  hgvsc: ENST00000358544.2:c.11979_11983delCCATT
  hgvsp: ENSP00000351346.2:p.Tyr3993Ter
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11904_11908delCCATT
  hgvsp: ENSP00000349685.2:p.Tyr3968Ter
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2287_*142-2283delAATGG
  variant of: http://identifiers.org/hgnc/2285
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr3993Ter
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: ACCATT
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

8-100887813-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 100887813
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 100887813
    reference: chr 8
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000428702
  ensembl transcript: ENST00000522934
  gene symbol: COX6C
  hgvsc: ENST00000522934.1:c.*142-2292C>G
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000349685
  ensembl transcript: ENST00000357162
  gene symbol: VPS13B
  hgvsc: ENST00000357162.2:c.11913G>C
  hgvsp: ENST00000357162.2:c.11913G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164919
  ensembl protein: ENSP00000429991
  ensembl transcript: ENST00000520517
  gene symbol: COX6C
  hgvsc: ENST00000520517.1:c.*142-493C>G
  variant of: http://identifiers.org/hgnc/2285
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000132549
  ensembl protein: ENSP00000379318
  ensembl transcript: ENST00000395996
  gene symbol: VPS13B
  hgvsc: ENST00000395996.1:c.*7771G>C
  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.11988G>C
  hgvsp: ENST00000358544.2:c.11988G>C(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: ENST00000493587
  gene symbol: VPS13B
  hgvsc: ENST00000493587.1:n.1490G>C
  variant of: http://identifiers.org/hgnc/2183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu3996Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049034887903129e-4
allele num: 66728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.894e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 5.798492e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496133325340207e-5
allele num: 66724
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.231e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.614e0

VQSLOD
type: SiteQuality
SIO_000300: 8.21e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
SIO_000300: 5.797399e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.163e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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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: 10402
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.79664e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.225e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 10398
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.988e1

VQSLOD
type: SiteQuality
SIO_000300: 8.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

FS
type: SiteQuality
SIO_000300: 1.307e0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
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allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.108e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.438e1

DP
type: SiteQuality
SIO_000300: 5.795814e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

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

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

Other
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allele count: 0
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: 16512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.387e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 5.795307e6

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

FS
type: SiteQuality
SIO_000300: 1.389e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 5.79396e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.95e-1

FS
type: SiteQuality
SIO_000300: 1.453e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.890173410404624e-4
allele num: 10380
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.76e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.792472e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
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allele count: 3
allele frequency: 2.890173410404624e-4
allele num: 10380
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66604
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.792313e6

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

GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

East Asian
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Other
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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East Asian
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African
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.002642325246217e-5
allele num: 66608
num of homozygotes: 0

BaseQRankSum
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MQ
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.791941e6

ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.501366243281386e-5
allele num: 66606
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

European (Finnish)
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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African
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allele num: 10378
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Other
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num of homozygotes: 0

MQ
type: SiteQuality
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.983e0

QD
type: SiteQuality
SIO_000300: 1.184e1

FS
type: SiteQuality
SIO_000300: 2.3178e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQ
type: SiteQuality
SIO_000300: 5.894e1

DP
type: SiteQuality
SIO_000300: 5.788775e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.641e0

MQRankSum
type: SiteQuality
SIO_000300: -9.24e-1

GenotypeQuality
all individuals: 386
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55456
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 4.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 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: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 9.377000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.731e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e0

DP
type: SiteQuality
SIO_000300: 5.788597e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.471e0

QD
type: SiteQuality
SIO_000300: 1.518e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.99e-1

GenotypeQuality
all individuals: 1728
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

QD
type: SiteQuality
SIO_000300: 1.767e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.031e0

MQ
type: SiteQuality
SIO_000300: 5.522e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

DP
type: SiteQuality
SIO_000300: 5.788575e6

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

GenotypeQuality
all individuals: 22447
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 11859
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9851
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3534
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.223968e6

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.385e0

FS
type: SiteQuality
SIO_000300: 1.027e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

GenotypeQuality
all individuals: 155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11866
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 9854
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5072
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

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

African
type: Population
allele count: 20
allele frequency: 1.932740626207963e-3
allele num: 10348
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.349e1

MQ
type: SiteQuality
SIO_000300: 5.792e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.22432e6

FS
type: SiteQuality
SIO_000300: 1.175e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

GenotypeQuality
all individuals: 5071
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9858
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 9.25e1
variant carriers: 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: 10314
num of homozygotes: 0

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

East Asian
type: Population
allele count: 12
allele frequency: 1.395348837209302e-3
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.511567814434229e-5
allele num: 66564
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.233e0

FS
type: SiteQuality
SIO_000300: 1.133e0

DP
type: SiteQuality
SIO_000300: 2.221417e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.132e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22615
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 5.41e-1

DP
type: SiteQuality
SIO_000300: 2.218066e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.43e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5073
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22615
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3541
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.939111886755866e-4
allele num: 10314
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

FS
type: SiteQuality
SIO_000300: 5.41e-1

DP
type: SiteQuality
SIO_000300: 2.218066e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.175e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11832
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3544
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003995313767311e-5
allele num: 66578
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.14e0

VQSLOD
type: SiteQuality
SIO_000300: -4.195e0

QD
type: SiteQuality
SIO_000300: 1.493e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 2.4481e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

DP
type: SiteQuality
SIO_000300: 2.218436e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3446
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22768
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3544
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5077
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11831
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -7.257e-1

FS
type: SiteQuality
SIO_000300: 5.679e0

DP
type: SiteQuality
SIO_000300: 2.218607e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.064e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.354e1

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11832
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3446
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.219131e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.823e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.883e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.518e1

FS
type: SiteQuality
SIO_000300: 2.652e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

GenotypeQuality
all individuals: 22997
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.72e1

MQRankSum
type: SiteQuality
SIO_000300: -7.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.456e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.389e1

FS
type: SiteQuality
SIO_000300: 2.694e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

DP
type: SiteQuality
SIO_000300: 2.220666e6

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 8.75e1
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GenotypeQuality
all individuals: 11829
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.220765e6

MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

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

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3555
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5080
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variant carriers: 0

GenotypeQuality
all individuals: 11832
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.753e0

QD
type: SiteQuality
SIO_000300: 6.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.194000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.025e0

DP
type: SiteQuality
SIO_000300: 2.221713e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.818e0

VQSLOD
type: SiteQuality
SIO_000300: 3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.25e1

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9915
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.169e1

FS
type: SiteQuality
SIO_000300: 1.024e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

DP
type: SiteQuality
SIO_000300: 2.222224e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23179
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 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: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.512e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.692e0

MQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

MQ
type: SiteQuality
SIO_000300: 5.991e1

VQSLOD
type: SiteQuality
SIO_000300: -2.266e0

DP
type: SiteQuality
SIO_000300: 2.222222e6

FS
type: SiteQuality
SIO_000300: 1.2638e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11827
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.136e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

DP
type: SiteQuality
SIO_000300: 2.222266e6

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1490
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9925
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5081
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 11830
bin: 9.75e1
variant carriers: 53

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 43
allele frequency: 4.134615384615385e-3
allele num: 10400
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.89e0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 1.757e1

MQ
type: SiteQuality
SIO_000300: 5.73e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

DP
type: SiteQuality
SIO_000300: 2.221964e6

GenotypeQuality
all individuals: 2139
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5092
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9936
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 2.213359e6

QD
type: SiteQuality
SIO_000300: 1.212e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.192e0

FS
type: SiteQuality
SIO_000300: 2.616e0

VQSLOD
type: SiteQuality
SIO_000300: 9.66e-1

GenotypeQuality
all individuals: 23225
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 2139
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9939
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11785
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 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: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

FS
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.665e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.57e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.237e1

DP
type: SiteQuality
SIO_000300: 2.213104e6

GenotypeQuality
all individuals: 3559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5091
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 23227
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
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: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e0

DP
type: SiteQuality
SIO_000300: 2.212731e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 8.750999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

MQ
type: SiteQuality
SIO_000300: 5.754e1

GenotypeQuality
all individuals: 2139
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3559
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 5091
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.750999999999999e0

DP
type: SiteQuality
SIO_000300: 2.212731e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.754e1

QD
type: SiteQuality
SIO_000300: 8.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.348678295270635e-4
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

FS
type: SiteQuality
SIO_000300: 5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 2.212746e6

QD
type: SiteQuality
SIO_000300: 1.378e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11771
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5092
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 2.211721e6

QD
type: SiteQuality
SIO_000300: 1.613e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.13e-1

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.613e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 2.211721e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.13e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9948
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.02e-1

DP
type: SiteQuality
SIO_000300: 2.211216e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.305e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: -1.801e0

QD
type: SiteQuality
SIO_000300: 1.723e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23250
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.083e0

DP
type: SiteQuality
SIO_000300: 2.211089e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.527e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1493
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.184e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

DP
type: SiteQuality
SIO_000300: 2.210961e6

QD
type: SiteQuality
SIO_000300: 1.369e1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 44

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 43
allele frequency: 4.968800554656806e-3
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.369e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.184e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.210961e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
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: 0
allele frequency: 0.0e0
allele num: 11576
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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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.661e0

ReadPosRankSum
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SIO_000300: 1.17e0

MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.205686e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.47e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1831e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.91e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
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FS
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 6.056935190793458e-5
allele num: 16510
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: 10406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.01e-1

DP
type: SiteQuality
SIO_000300: 2.205334e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.509e0

FS
type: SiteQuality
SIO_000300: 4.888e0

MQ
type: SiteQuality
SIO_000300: 6.033e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.25e-2

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

GenotypeQuality
all individuals: 5097
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 11725
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.283e0

FS
type: SiteQuality
SIO_000300: 5.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.62e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.502e1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 2.205392e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.491983577571999e-5
allele num: 66738
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -4.797e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.62e-1

DP
type: SiteQuality
SIO_000300: 2.205392e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQ
type: SiteQuality
SIO_000300: 5.502e1

FS
type: SiteQuality
SIO_000300: 5.49e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.233e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.491983577571999e-5
allele num: 66738
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.828e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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MQRankSum
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SIO_000300: -5.491e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.205425e6

MQ
type: SiteQuality
SIO_000300: 5.405e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.714e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.351e0

VQSLOD
type: SiteQuality
SIO_000300: -1.997e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.423e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.827e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

QD
type: SiteQuality
SIO_000300: 1.534e1

DP
type: SiteQuality
SIO_000300: 2.20499e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.492208103572285e-5
allele num: 66736
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 2.205163e6

QD
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 2.726e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.899999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.118e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQ
type: SiteQuality
SIO_000300: 5.313e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.152e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 2.204429e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

InbreedingCoeff
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SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
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South Asian
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allele num: 16510
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 7.0e-4

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.56e-1

DP
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SIO_000300: 2.205015e6

BaseQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.972e1

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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bin: 9.75e1
variant carriers: 26

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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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 23
allele frequency: 2.21026330962906e-3
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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SIO_000300: 2.20533e6

QD
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SIO_000300: 1.452e1

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.48e-1

InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
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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
all individuals: 4
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GenotypeQuality
all individuals: 1495
bin: 8.75e1
variant carriers: 0

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

African
type: Population
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 2.662e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.232e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.203089e6

VQSLOD
type: SiteQuality
SIO_000300: 9.17e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.693e0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5089
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

FS
type: SiteQuality
SIO_000300: 3.145e0

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

DP
type: SiteQuality
SIO_000300: 2.202299e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.172e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e0

QD
type: SiteQuality
SIO_000300: 1.515e1

GenotypeQuality
all individuals: 5088
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11690
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e0

DP
type: SiteQuality
SIO_000300: 2.202259e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.345e0

FS
type: SiteQuality
SIO_000300: 1.597e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.136e0

VQSLOD
type: SiteQuality
SIO_000300: -1.271e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

QD
type: SiteQuality
SIO_000300: 9.42e0

MQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.121e1

MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

FS
type: SiteQuality
SIO_000300: 4.086e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

DP
type: SiteQuality
SIO_000300: 2.202209e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.149e0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11690
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.202209e6

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

FS
type: SiteQuality
SIO_000300: 4.086e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.149e0

MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.121e1

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

GenotypeQuality
all individuals: 3558
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23323
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3451
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

QD
type: SiteQuality
SIO_000300: 1.072e1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

DP
type: SiteQuality
SIO_000300: 2.201937e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

GenotypeQuality
all individuals: 11694
bin: 9.75e1
variant carriers: 90

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
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variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 23320
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 87
allele frequency: 1.00531546105847e-2
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.203314e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.056e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.203314e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
type: Population
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: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.592e0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.196378e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.188e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

QD
type: SiteQuality
SIO_000300: 1.188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.42e0

FS
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.79e-1

DP
type: SiteQuality
SIO_000300: 2.196164e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.21e-1

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23365
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.337e0

DP
type: SiteQuality
SIO_000300: 2.195984e6

VQSLOD
type: SiteQuality
SIO_000300: 2.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.38e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

FS
type: SiteQuality
SIO_000300: 3.642e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.837e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5095
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.702e1

MQRankSum
type: SiteQuality
SIO_000300: -1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.199e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

DP
type: SiteQuality
SIO_000300: 2.195847e6

QD
type: SiteQuality
SIO_000300: 1.203e1

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9956
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3560
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 29
allele frequency: 3.351051536861567e-3
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.926e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

QD
type: SiteQuality
SIO_000300: 1.203e1

DP
type: SiteQuality
SIO_000300: 2.196243e6

GenotypeQuality
all individuals: 2133
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11582
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1495
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.983e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.193717e6

VQSLOD
type: SiteQuality
SIO_000300: 8.71e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 4.778e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5096
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11581
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

DP
type: SiteQuality
SIO_000300: 2.193639e6

MQRankSum
type: SiteQuality
SIO_000300: -7.11e0

QD
type: SiteQuality
SIO_000300: 7.64e0

MQ
type: SiteQuality
SIO_000300: 5.112e1

GenotypeQuality
all individuals: 11582
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5098
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3456
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.525e1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0