7-5097314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097314
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097314
    reference: chr 7
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.143-1G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.143-1G>A
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.143-1G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.436-1G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.143-1G>A
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  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
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10922
  bin: 6.25e1
  variant carriers: 0
hgvs: c.143-1G>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-5097317-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097317
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097317
    reference: chr 7
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.438T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.145T>C
  hgvsp: ENSP00000275423.4:p.Tyr49His
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.145T>C
  hgvsp: ENSP00000380120.1:p.Tyr49His
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.145T>C
  hgvsp: ENSP00000380112.2:p.Tyr49His
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.145T>C
  hgvsp: ENSP00000385560.1:p.Tyr49His
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr49His
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

7-5097324-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097324
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097324
    reference: chr 7
allele count: 6
allele frequency: 4.945272319662403e-5
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.152C>T
  hgvsp: ENSP00000380120.1:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.152C>T
  hgvsp: ENSP00000275423.4:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.152C>T
  hgvsp: ENSP00000380112.2:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.152C>T
  hgvsp: ENSP00000385560.1:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.445C>T
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
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genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 30505
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4010
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10957
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr51Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

7-5097336-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097336
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097336
    reference: chr 7
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.164A>T
  hgvsp: ENSP00000380120.1:p.Asn55Ile
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.164A>T
  hgvsp: ENSP00000275423.4:p.Asn55Ile
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.164A>T
  hgvsp: ENSP00000385560.1:p.Asn55Ile
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.457A>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.164A>T
  hgvsp: ENSP00000380112.2:p.Asn55Ile
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30506
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn55Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

7-5097337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097337
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097337
    reference: chr 7
allele count: 3
allele frequency: 2.471902705909495e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.165C>T
  hgvsp: ENST00000396904.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.458C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.165C>T
  hgvsp: ENST00000396912.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.165C>T
  hgvsp: ENST00000407184.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.165C>T
  hgvsp: ENST00000353796.3:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 8.75e1
  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: 2094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30507
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn55Asn
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

7-5097338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097338
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097338
    reference: chr 7
allele count: 210
allele frequency: 1.730331894136647e-3
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.166G>A
  hgvsp: ENSP00000275423.4:p.Val56Ile
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.459G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.166G>A
  hgvsp: ENSP00000385560.1:p.Val56Ile
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.166G>A
  hgvsp: ENSP00000380112.2:p.Val56Ile
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.166G>A
  hgvsp: ENSP00000380120.1:p.Val56Ile
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 9.75e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30557
  bin: 9.75e1
  variant carriers: 209
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val56Ile
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-5097340-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097340
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097340
    reference: chr 7
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.168C>A
  hgvsp: ENST00000396904.2:c.168C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.461C>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.168C>A
  hgvsp: ENST00000353796.3:c.168C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.168C>A
  hgvsp: ENST00000396912.1:c.168C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.168C>A
  hgvsp: ENST00000407184.1:c.168C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val56Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

7-5097341-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097341
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097341
    reference: chr 7
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.169A>G
  hgvsp: ENSP00000380120.1:p.Ile57Val
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.169A>G
  hgvsp: ENSP00000385560.1:p.Ile57Val
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.462A>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.169A>G
  hgvsp: ENSP00000275423.4:p.Ile57Val
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.169A>G
  hgvsp: ENSP00000380112.2:p.Ile57Val
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile57Val
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

7-5097349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097349
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097349
    reference: chr 7
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.470G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.177G>A
  hgvsp: ENST00000407184.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.177G>A
  hgvsp: ENST00000396912.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.177G>A
  hgvsp: ENST00000396904.2:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.177G>A
  hgvsp: ENST00000353796.3:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 3.75e1
  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: 2326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30488
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys59Lys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

7-5097357-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097357
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097357
    reference: chr 7
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.185A>T
  hgvsp: ENSP00000275423.4:p.Gln62Leu
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.185A>T
  hgvsp: ENSP00000385560.1:p.Gln62Leu
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.185A>T
  hgvsp: ENSP00000380120.1:p.Gln62Leu
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.185A>T
  hgvsp: ENSP00000380112.2:p.Gln62Leu
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.478A>T
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30488
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln62Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

7-5097367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097367
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097367
    reference: chr 7
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.195G>A
  hgvsp: ENST00000396904.2:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.488G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.195G>A
  hgvsp: ENST00000396912.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.195G>A
  hgvsp: ENST00000353796.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.195G>A
  hgvsp: ENST00000407184.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30489
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  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: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu65Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

7-5097369-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097369
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097369
    reference: chr 7
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.197C>T
  hgvsp: ENSP00000385560.1:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.197C>T
  hgvsp: ENSP00000275423.4:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.197C>T
  hgvsp: ENSP00000380112.2:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.490C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.197C>T
  hgvsp: ENSP00000380120.1:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30488
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro66Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

7-5097370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097370
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097370
    reference: chr 7
allele count: 22
allele frequency: 1.812340390476975e-4
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.198G>A
  hgvsp: ENST00000396912.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.198G>A
  hgvsp: ENST00000396904.2:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.198G>A
  hgvsp: ENST00000407184.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.198G>A
  hgvsp: ENST00000353796.3:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.491G>A
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  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: 30494
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 6.75e1
  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: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro66Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-5097373-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097373
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097373
    reference: chr 7
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.201G>C
  hgvsp: ENSP00000380120.1:p.Trp67Cys
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.494G>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.201G>C
  hgvsp: ENSP00000275423.4:p.Trp67Cys
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.201G>C
  hgvsp: ENSP00000380112.2:p.Trp67Cys
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.201G>C
  hgvsp: ENSP00000385560.1:p.Trp67Cys
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Trp67Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-5097381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097381
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097381
    reference: chr 7
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.209G>A
  hgvsp: ENSP00000380120.1:p.Gly70Glu
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.209G>A
  hgvsp: ENSP00000275423.4:p.Gly70Glu
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.209G>A
  hgvsp: ENSP00000385560.1:p.Gly70Glu
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.502G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.209G>A
  hgvsp: ENSP00000380112.2:p.Gly70Glu
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30482
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly70Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

7-5097383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097383
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097383
    reference: chr 7
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.211G>A
  hgvsp: ENSP00000380120.1:p.Gly71Ser
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.211G>A
  hgvsp: ENSP00000385560.1:p.Gly71Ser
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.211G>A
  hgvsp: ENSP00000275423.4:p.Gly71Ser
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.504G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.211G>A
  hgvsp: ENSP00000380112.2:p.Gly71Ser
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.75e1
  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: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30483
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Gly71Ser
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: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS

7-5097386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097386
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097386
    reference: chr 7
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.214G>A
  hgvsp: ENSP00000275423.4:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.214G>A
  hgvsp: ENSP00000385560.1:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.507G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.214G>A
  hgvsp: ENSP00000380120.1:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.214G>A
  hgvsp: ENSP00000380112.2:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  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
hgvs: p.Glu72Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

7-5097392-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097392
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097392
    reference: chr 7
allele count: 205
allele frequency: 1.688910858461031e-3
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.220C>G
  hgvsp: ENSP00000385560.1:p.Pro74Ala
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.220C>G
  hgvsp: ENSP00000380112.2:p.Pro74Ala
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.220C>G
  hgvsp: ENSP00000275423.4:p.Pro74Ala
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.513C>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.220C>G
  hgvsp: ENSP00000380120.1:p.Pro74Ala
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 9.75e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  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: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro74Ala
num of homozygotes: 5
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

7-5097393-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097393
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097393
    reference: chr 7
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.221C>T
  hgvsp: ENSP00000275423.4:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.514C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.221C>T
  hgvsp: ENSP00000380112.2:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.221C>T
  hgvsp: ENSP00000380120.1:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.221C>T
  hgvsp: ENSP00000385560.1:p.Pro74Leu
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro74Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

7-5097394-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097394
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097394
    reference: chr 7
allele count: 37
allele frequency: 3.048177684044025e-4
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.222A>G
  hgvsp: ENST00000396904.2:c.222A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.222A>G
  hgvsp: ENST00000396912.1:c.222A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.222A>G
  hgvsp: ENST00000407184.1:c.222A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.515A>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.222A>G
  hgvsp: ENST00000353796.3:c.222A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30455
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 4
  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: 0
  bin: 4.75e1
  variant carriers: 0
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: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro74Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

7-5097400-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097400
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097400
    reference: chr 7
allele count: 5
allele frequency: 4.11936265221045e-5
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.228A>G
  hgvsp: ENST00000396904.2:c.228A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.228A>G
  hgvsp: ENST00000396912.1:c.228A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.228A>G
  hgvsp: ENST00000407184.1:c.228A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.521A>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.228A>G
  hgvsp: ENST00000353796.3:c.228A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  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: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln76Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-5097400-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097400
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097400
    reference: chr 7
allele count: 9
allele frequency: 7.41485277397881e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.228A>C
  hgvsp: ENSP00000385560.1:p.Gln76His
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.228A>C
  hgvsp: ENSP00000275423.4:p.Gln76His
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.228A>C
  hgvsp: ENSP00000380120.1:p.Gln76His
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.228A>C
  hgvsp: ENSP00000380112.2:p.Gln76His
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.521A>C
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln76His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

7-5097400-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097400
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097400
    reference: chr 7
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.228A>T
  hgvsp: ENSP00000385560.1:p.Gln76His
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.228A>T
  hgvsp: ENSP00000380112.2:p.Gln76His
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.228A>T
  hgvsp: ENSP00000275423.4:p.Gln76His
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.228A>T
  hgvsp: ENSP00000380120.1:p.Gln76His
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.521A>T
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30448
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln76His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-5097404-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097404
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097404
    reference: chr 7
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.232A>C
  hgvsp: ENSP00000380120.1:p.Ser78Arg
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.232A>C
  hgvsp: ENSP00000385560.1:p.Ser78Arg
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.232A>C
  hgvsp: ENSP00000380112.2:p.Ser78Arg
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.232A>C
  hgvsp: ENSP00000275423.4:p.Ser78Arg
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.525A>C
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30442
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser78Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

7-5097407-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097407
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097407
    reference: chr 7
allele count: 3
allele frequency: 2.472187886279357e-5
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.235C>G
  hgvsp: ENSP00000380112.2:p.Pro79Ala
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.528C>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.235C>G
  hgvsp: ENSP00000275423.4:p.Pro79Ala
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.235C>G
  hgvsp: ENSP00000385560.1:p.Pro79Ala
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.235C>G
  hgvsp: ENSP00000380120.1:p.Pro79Ala
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30443
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro79Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

7-5097409-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097409
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097409
    reference: chr 7
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.237A>G
  hgvsp: ENST00000353796.3:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.237A>G
  hgvsp: ENST00000407184.1:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.530A>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.237A>G
  hgvsp: ENST00000396904.2:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.237A>G
  hgvsp: ENST00000396912.1:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
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: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30442
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
hgvs: c.237A>G
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-5097413-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097413
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097413
    reference: chr 7
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+3A>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+3A>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+3A>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+3A>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+3A>C
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 8.75e1
  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: 2093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
hgvs: c.238+3A>C
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

7-5097423-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097423
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097423
    reference: chr 7
allele count: 48
allele frequency: 3.958044725905402e-4
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+13C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+13C>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+13C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+13C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+13C>T
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6900
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30470
  bin: 9.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10630
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-5097424-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097424
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097424
    reference: chr 7
allele count: 9
allele frequency: 7.421823459559309e-5
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+14G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+14G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+14G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+14G>A
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+14G>A
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  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: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum

7-5097427-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097427
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097427
    reference: chr 7
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+17T>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+17T>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+17T>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+17T>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+17T>G
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

7-5097430-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097430
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097430
    reference: chr 7
allele count: 2
allele frequency: 1.649538953862396e-5
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+20A>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+20A>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+20A>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+20A>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+20A>T
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
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: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30439
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

7-5097432-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097432
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097432
    reference: chr 7
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+22G>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+22G>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+22G>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+22G>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+22G>C
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

7-5097433-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097433
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097433
    reference: chr 7
allele count: 3
allele frequency: 2.474757473767571e-5
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+23G>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+23G>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+23G>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+23G>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+23G>T
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30439
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

7-5097445-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097445
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097445
    reference: chr 7
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+35T>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+35T>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+35T>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+35T>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+35T>G
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30438
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-5097446-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097446
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097446
    reference: chr 7
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+36C>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+36C>A
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+36C>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+36C>A
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+36C>A
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-5097449-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097449
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097449
    reference: chr 7
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+39C>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+39C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+39C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+39C>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+39C>T
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

7-5097453-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097453
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097453
    reference: chr 7
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+43G>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+43G>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+43G>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+43G>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+43G>T
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30428
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-5097455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097455
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097455
    reference: chr 7
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+45C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+45C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+45C>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+45C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+45C>T
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30427
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

7-5097458-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097458
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097458
    reference: chr 7
allele count: 2
allele frequency: 1.653548515113433e-5
allele num: 120952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+48T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+48T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+48T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+48T>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+48T>C
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-5097461-GGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097461
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097459
    reference: chr 7
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+56_238+57delGA
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+56_531+57delGA
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+56_238+57delGA
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+56_238+57delGA
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+56_238+57delGA
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: GGA
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

7-5097462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5097462
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5097462
    reference: chr 7
allele count: 2
allele frequency: 1.655272871732905e-5
allele num: 120826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.238+52G>A
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+52G>A
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.531+52G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.238+52G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.238+52G>A
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30422
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

7-5103305-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103305
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103305
    reference: chr 7
allele count: 1
allele frequency: 2.086898451521349e-5
allele num: 47918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.239-21T>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.532-21T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.239-21T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5895T>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.239-21T>C
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30658
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4775
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9954
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

7-5103311-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103311
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103311
    reference: chr 7
allele count: 1
allele frequency: 1.84114592922635e-5
allele num: 54314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.532-15A>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.239-15A>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5901A>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.239-15A>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.239-15A>G
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

7-5103312-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103312
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103312
    reference: chr 7
allele count: 1
allele frequency: 1.795590030884149e-5
allele num: 55692
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5902T>A
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.239-14T>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.239-14T>A
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.239-14T>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.532-14T>A
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29505
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

7-5103316-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103316
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103316
    reference: chr 7
allele count: 1
allele frequency: 1.624114857402715e-5
allele num: 61572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.532-10T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.239-10T>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.239-10T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.239-10T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5906T>C
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20193
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2391
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 19727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
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genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 27686
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

7-5103319-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103319
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103319
    reference: chr 7
allele count: 2
allele frequency: 2.955344740964034e-5
allele num: 67674
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.239-7T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5909T>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.532-7T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.239-7T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.239-7T>C
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23608
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 1983
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2019
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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: 211
  bin: 2.5e0
  variant carriers: 0
hgvs: c.239-7T>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

7-5103322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103322
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103322
    reference: chr 7
allele count: 2
allele frequency: 2.709366279227289e-5
allele num: 73818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.532-4T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5912T>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.239-4T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.239-4T>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.239-4T>C
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 1052
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genotype quality: GenotypeQuality
  all individuals: 22676
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 620
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genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
hgvs: c.239-4T>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

7-5103323-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103323
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103323
    reference: chr 7
allele count: 53
allele frequency: 6.947539522323886e-4
allele num: 76286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.532-3T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.239-3T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.239-3T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.239-3T>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5913T>C
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 21438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28770
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
hgvs: c.239-3T>C
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-5103333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103333
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103333
    reference: chr 7
allele count: 1
allele frequency: 1.052587259483811e-5
allele num: 95004
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5923G>A
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.246G>A
  hgvsp: ENSP00000380120.1:p.Trp82Ter
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.246G>A
  hgvsp: ENSP00000385560.1:p.Trp82Ter
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.246G>A
  hgvsp: ENSP00000275423.4:p.Trp82Ter
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.539G>A
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12894
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp82Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-5103334-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103334
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103334
    reference: chr 7
allele count: 2
allele frequency: 2.079304680514836e-5
allele num: 96186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.247A>G
  hgvsp: ENSP00000275423.4:p.Arg83Gly
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.540A>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.247A>G
  hgvsp: ENSP00000380120.1:p.Arg83Gly
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.247A>G
  hgvsp: ENSP00000385560.1:p.Arg83Gly
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5924A>G
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36899
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg83Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-5103335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103335
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103335
    reference: chr 7
allele count: 1
allele frequency: 1.02969644548787e-5
allele num: 97116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.248G>A
  hgvsp: ENSP00000275423.4:p.Arg83Lys
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.541G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.248G>A
  hgvsp: ENSP00000380120.1:p.Arg83Lys
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5925G>A
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.248G>A
  hgvsp: ENSP00000385560.1:p.Arg83Lys
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38363
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11933
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg83Lys
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

7-5103345-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103345
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103345
    reference: chr 7
allele count: 2
allele frequency: 1.910694155186579e-5
allele num: 104674
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.258C>T
  hgvsp: ENST00000396912.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.551C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.258C>T
  hgvsp: ENST00000353796.3:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5935C>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.258C>T
  hgvsp: ENST00000407184.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40970
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp86Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

7-5103354-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103354
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103354
    reference: chr 7
allele count: 1
allele frequency: 9.088100041805261e-6
allele num: 110034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.267G>A
  hgvsp: ENST00000353796.3:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.267G>A
  hgvsp: ENST00000407184.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.267G>A
  hgvsp: ENST00000396912.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.560G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5944G>A
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu89Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

7-5103369-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103369
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103369
    reference: chr 7
allele count: 6
allele frequency: 5.200839068703084e-5
allele num: 115366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.282C>T
  hgvsp: ENST00000353796.3:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.282C>T
  hgvsp: ENST00000396912.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.282C>T
  hgvsp: ENST00000407184.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5959C>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.575C>T
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn94Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

7-5103375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103375
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103375
    reference: chr 7
allele count: 1
allele frequency: 8.524713143402724e-6
allele num: 117306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.581C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5965C>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.288C>T
  hgvsp: ENST00000396912.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.288C>T
  hgvsp: ENST00000353796.3:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.288C>T
  hgvsp: ENST00000407184.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp96Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-5103377-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103377
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103377
    reference: chr 7
allele count: 1
allele frequency: 8.49285750683675e-6
allele num: 117746
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.290A>C
  hgvsp: ENSP00000380120.1:p.Lys97Thr
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.290A>C
  hgvsp: ENSP00000275423.4:p.Lys97Thr
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.290A>C
  hgvsp: ENSP00000385560.1:p.Lys97Thr
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5967A>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.583A>C
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys97Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

7-5103377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103377
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103377
    reference: chr 7
allele count: 1
allele frequency: 8.49285750683675e-6
allele num: 117746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.290A>G
  hgvsp: ENSP00000385560.1:p.Lys97Arg
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.290A>G
  hgvsp: ENSP00000275423.4:p.Lys97Arg
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.290A>G
  hgvsp: ENSP00000380120.1:p.Lys97Arg
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.583A>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5967A>G
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys97Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

7-5103385-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103385
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103385
    reference: chr 7
allele count: 1
allele frequency: 8.410287463625507e-6
allele num: 118902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.298A>G
  hgvsp: ENSP00000385560.1:p.Ser100Gly
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.298A>G
  hgvsp: ENSP00000380120.1:p.Arg100Gly
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.591A>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.298A>G
  hgvsp: ENSP00000275423.4:p.Arg100Gly
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5975A>G
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg100Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

7-5103386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103386
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103386
    reference: chr 7
allele count: 1
allele frequency: 8.405762991106703e-6
allele num: 118966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.299G>A
  hgvsp: ENSP00000275423.4:p.Arg100Lys
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.592G>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299G>A
  hgvsp: ENSP00000385560.1:p.Ser100Asn
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5976G>A
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.299G>A
  hgvsp: ENSP00000380120.1:p.Arg100Lys
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46119
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg100Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

7-5103387-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103387
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103387
    reference: chr 7
allele count: 11
allele frequency: 9.239039139929447e-5
allele num: 119060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.300G>T
  hgvsp: ENSP00000275423.4:p.Arg100Ser
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5977G>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+1G>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.300G>T
  hgvsp: ENSP00000380120.1:p.Arg100Ser
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.593G>T
  variant of: http://identifiers.org/hgnc/17680
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44441
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9709
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
hgvs: c.299+1G>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

7-5103396-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103396
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103396
    reference: chr 7
allele count: 1
allele frequency: 8.34306691139663e-6
allele num: 119860
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5986T>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.602T>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.309T>G
  hgvsp: ENST00000396912.1:c.309T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.309T>G
  hgvsp: ENST00000353796.3:c.309T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+10T>G
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10175
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala103Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/7-5103403-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103403
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103403
    reference: chr 7
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.316A>C
  hgvsp: ENSP00000380120.1:p.Asn106His
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.316A>C
  hgvsp: ENSP00000275423.4:p.Asn106His
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5993A>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+17A>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.609A>C
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn106His
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-5103404-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103404
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103404
    reference: chr 7
allele count: 24
allele frequency: 1.995311019105103e-4
allele num: 120282
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+5994A>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.317A>G
  hgvsp: ENSP00000275423.4:p.Asn106Ser
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.610A>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.317A>G
  hgvsp: ENSP00000380120.1:p.Asn106Ser
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+18A>G
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44340
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn106Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-5103413-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103413
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103413
    reference: chr 7
allele count: 2
allele frequency: 1.657385308936622e-5
allele num: 120672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.326C>A
  hgvsp: ENSP00000275423.4:p.Thr109Asn
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+27C>A
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.619C>A
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.326C>A
  hgvsp: ENSP00000380120.1:p.Thr109Asn
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+6003C>A
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr109Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

7-5103420-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103420
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103420
    reference: chr 7
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+34T>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.626T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+6010T>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.333T>C
  hgvsp: ENST00000396912.1:c.333T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.333T>C
  hgvsp: ENST00000353796.3:c.333T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6039
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr111Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

7-5103424-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103424
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103424
    reference: chr 7
allele count: 14
allele frequency: 1.156737998843262e-4
allele num: 121030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+38G>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.337G>C
  hgvsp: ENSP00000275423.4:p.Glu113Gln
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.630G>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+6014G>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.337G>C
  hgvsp: ENSP00000380120.1:p.Glu113Gln
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu113Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

7-5103433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103433
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103433
    reference: chr 7
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.639A>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.346A>G
  hgvsp: ENSP00000275423.4:p.Asn116Asp
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+6023A>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.346A>G
  hgvsp: ENSP00000380120.1:p.Asn116Asp
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+47A>G
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn116Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

7-5103440-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103440
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103440
    reference: chr 7
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+6030T>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+54T>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.353T>G
  hgvsp: ENSP00000380120.1:p.Phe118Cys
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.646T>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.353T>G
  hgvsp: ENSP00000275423.4:p.Phe118Cys
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe118Cys
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-5103447-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103447
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103447
    reference: chr 7
allele count: 9
allele frequency: 7.421211471543777e-5
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.653A>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.360A>C
  hgvsp: ENSP00000275423.4:p.Gln120His
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.360A>C
  hgvsp: ENSP00000380120.1:p.Gln120His
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+61A>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+6037A>C
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln120His
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

7-5103447-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103447
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103447
    reference: chr 7
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+6037A>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.653A>G
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+61A>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.360A>G
  hgvsp: ENST00000396912.1:c.360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.360A>G
  hgvsp: ENST00000353796.3:c.360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47482
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln120Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/7-5103448-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103448
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103448
    reference: chr 7
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.361A>C
  hgvsp: ENSP00000275423.4:p.Ile121Leu
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.361A>C
  hgvsp: ENSP00000380120.1:p.Ile121Leu
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+6038A>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+62A>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.654A>C
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
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: 47487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile121Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

7-5103454-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103454
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103454
    reference: chr 7
allele count: 3
allele frequency: 2.473125370968806e-5
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+68A>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.367A>G
  hgvsp: ENSP00000275423.4:p.Met123Val
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.367A>G
  hgvsp: ENSP00000380120.1:p.Met123Val
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+6044A>G
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.660A>G
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met123Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

7-5103466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103466
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103466
    reference: chr 7
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.379C>T
  hgvsp: ENSP00000380120.1:p.Leu127Phe
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.672C>T
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+6056C>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+80C>T
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.379C>T
  hgvsp: ENSP00000275423.4:p.Leu127Phe
  variant of: http://identifiers.org/hgnc/17680
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu127Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

7-5103467-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5103467
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 5103467
    reference: chr 7
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000146587
  ensembl transcript: ENST00000476992
  gene symbol: RBAK
  hgvsc: ENST00000476992.1:n.673T>C
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000275423
  ensembl transcript: ENST00000353796
  gene symbol: RBAK
  hgvsc: ENST00000353796.3:c.380T>C
  hgvsp: ENSP00000275423.4:p.Leu127Pro
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000385560
  ensembl transcript: ENST00000407184
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000407184.1:c.299+81T>C
  variant of: http://identifiers.org/hgnc/42971
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146587
  ensembl protein: ENSP00000380120
  ensembl transcript: ENST00000396912
  gene symbol: RBAK
  hgvsc: ENST00000396912.1:c.380T>C
  hgvsp: ENSP00000380120.1:p.Leu127Pro
  variant of: http://identifiers.org/hgnc/17680
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272968
  ensembl protein: ENSP00000380112
  ensembl transcript: ENST00000396904
  gene symbol: RBAK-RBAKDN
  hgvsc: ENST00000396904.2:c.238+6057T>C
  variant of: http://identifiers.org/hgnc/42971
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu127Pro
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 2116
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 30505
bin: 9.75e1
variant carriers: 1

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: 904
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: 66680
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.029e0

MQ
type: SiteQuality
SIO_000300: 5.851e1

DP
type: SiteQuality
SIO_000300: 2.778031e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.917e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.998e0

QD
type: SiteQuality
SIO_000300: 1.579e1

MQRankSum
type: SiteQuality
SIO_000300: -2.628e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10945
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4010
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3495
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30505
bin: 9.75e1
variant carriers: 1

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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
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: 11556
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 2.778351e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.678e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.089e1

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3495
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.496926260233305e-5
allele num: 66694
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: 11558
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: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.863e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

DP
type: SiteQuality
SIO_000300: 2.779254e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

VQSLOD
type: SiteQuality
SIO_000300: -2.363e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

QD
type: SiteQuality
SIO_000300: 1.227e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -1.872e0

FS
type: SiteQuality
SIO_000300: 3.988e0

GenotypeQuality
all individuals: 3620
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3499
bin: 7.75e1
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: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
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: 11562
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: 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: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

DP
type: SiteQuality
SIO_000300: 2.779461e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

FS
type: SiteQuality
SIO_000300: 1.849e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

QD
type: SiteQuality
SIO_000300: 1.446e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 6.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.384e0

GenotypeQuality
all individuals: 3497
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
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: 1
allele frequency: 9.609840476648087e-5
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

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: 66712
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.642e0

QD
type: SiteQuality
SIO_000300: 1.224e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
SIO_000300: 2.779723e6

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

FS
type: SiteQuality
SIO_000300: 1.273e0

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

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2112
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variant carriers: 0

GenotypeQuality
all individuals: 3778
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.459609064175748e-4
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
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: 6612
num of homozygotes: 0

African
type: Population
allele count: 199
allele frequency: 1.912358254852969e-2
allele num: 10406
num of homozygotes: 1

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

DP
type: SiteQuality
SIO_000300: 2.797866e6

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.01e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3504
bin: 7.75e1
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: 30488
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variant carriers: 1

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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

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: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 2.778954e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.798e0

FS
type: SiteQuality
SIO_000300: 3.578e0

VQSLOD
type: SiteQuality
SIO_000300: -3.208e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30489
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3504
bin: 7.75e1
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.47e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.862e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.074e0

DP
type: SiteQuality
SIO_000300: 2.778855e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.535e0

GenotypeQuality
all individuals: 3625
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3784
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variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 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: 66716
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: -3.472e0

DP
type: SiteQuality
SIO_000300: 2.778994e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.73e-1

FS
type: SiteQuality
SIO_000300: 3.313e0

VQSLOD
type: SiteQuality
SIO_000300: -1.448e0

QD
type: SiteQuality
SIO_000300: 1.636e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.862e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4014
bin: 6.75e1
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: 1
allele frequency: 6.056201550387597e-5
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: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.779054e6

FS
type: SiteQuality
SIO_000300: 2.182e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: -5.084e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.095e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2097
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GenotypeQuality
all individuals: 2115
bin: 8.75e1
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

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: 1.498756032493031e-5
allele num: 66722
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: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.779165e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.019e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.633e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-1

GenotypeQuality
all individuals: 4018
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3628
bin: 8.25e1
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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
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

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

DP
type: SiteQuality
SIO_000300: 2.779383e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.572e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.82e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.18e-1

FS
type: SiteQuality
SIO_000300: 2.583e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2096
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variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 8.75e1
variant carriers: 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: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
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

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

East Asian
type: Population
allele count: 21
allele frequency: 2.426623526692859e-3
allele num: 8654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 2.781925e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.507e0

QD
type: SiteQuality
SIO_000300: 9.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

GenotypeQuality
all individuals: 3629
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 11042
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 3507
bin: 7.75e1
variant carriers: 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 frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 2.779226e6

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

VQSLOD
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 1.494e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.691e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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

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

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

MQ
type: SiteQuality
SIO_000300: 5.166e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
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FS
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SIO_000300: 2.0609e1

BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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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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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
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQ
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SIO_000300: 5.912e1

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

Latino
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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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

African
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South Asian
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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MQ
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BaseQRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 200

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 196
allele frequency: 1.883528733423025e-2
allele num: 10406
num of homozygotes: 5

Latino
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allele count: 7
allele frequency: 6.048038707447727e-4
allele num: 11574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

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

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

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

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

Other
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allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

East Asian
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allele num: 8654
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.851e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.381e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

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

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: 32
allele frequency: 4.838221953432114e-3
allele num: 6614
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: 5
allele frequency: 7.494454103963068e-5
allele num: 66716
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.335e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

DP
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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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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variant carriers: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
allele num: 906
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Latino
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allele frequency: 0.0e0
allele num: 11574
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 num: 8654
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ReadPosRankSum
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DP
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FS
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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South Asian
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East Asian
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African
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allele frequency: 6.726888333653661e-4
allele num: 10406
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Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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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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African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 1.499295331194339e-5
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South Asian
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African
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Latino
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497885993583016e-5
allele num: 66698
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: -2.554e0

QD
type: SiteQuality
SIO_000300: 1.576e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

FS
type: SiteQuality
SIO_000300: 2.2877e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.131e0

DP
type: SiteQuality
SIO_000300: 2.776891e6

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3796
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3626
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2095
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10957
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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: 66694
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.907e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.055e0

VQSLOD
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

DP
type: SiteQuality
SIO_000300: 2.776462e6

QD
type: SiteQuality
SIO_000300: 1.39e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

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

GenotypeQuality
all individuals: 30442
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3796
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3505
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4013
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 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: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 2.0e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

DP
type: SiteQuality
SIO_000300: 2.775928e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.61e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3792
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3501
bin: 7.75e1
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

European (Non-Finnish)
type: Population
allele count: 46
allele frequency: 6.899655017249137e-4
allele num: 66670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.912e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.285e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 2.775496e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

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

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3623
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30439
bin: 9.75e1
variant carriers: 9

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
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: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.69e0

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

FS
type: SiteQuality
SIO_000300: 7.77e-1

DP
type: SiteQuality
SIO_000300: 2.773304e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.293e1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3501
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30437
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.772134e6

QD
type: SiteQuality
SIO_000300: 1.579e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

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

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
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: 904
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 9.56e0

DP
type: SiteQuality
SIO_000300: 2.770091e6

FS
type: SiteQuality
SIO_000300: 4.366e0

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

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

GenotypeQuality
all individuals: 2079
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3623
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30439
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3795
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 66654
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

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

FS
type: SiteQuality
SIO_000300: 1.652e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.254e0

MQ
type: SiteQuality
SIO_000300: 5.862e1

MQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.509e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.683e1

DP
type: SiteQuality
SIO_000300: 2.770007e6

GenotypeQuality
all individuals: 2076
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3795
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 5.75e1
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: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
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: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000750187546887e-5
allele num: 66650
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.768516e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.428e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 8.891999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQ
type: SiteQuality
SIO_000300: 5.852e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.643e0

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

GenotypeQuality
all individuals: 8986
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.791e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

MQ
type: SiteQuality
SIO_000300: 5.992e1

FS
type: SiteQuality
SIO_000300: 2.34e0

DP
type: SiteQuality
SIO_000300: 2.756817e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.9e-1

GenotypeQuality
all individuals: 2115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
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variant carriers: 0

GenotypeQuality
all individuals: 8579
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
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variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.421e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 2.754431e6

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.455e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
all individuals: 377
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.25e1
variant carriers: 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: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

DP
type: SiteQuality
SIO_000300: 2.751688e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.98e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.473e0

GenotypeQuality
all individuals: 595
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.546e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.744736e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.851e0

VQSLOD
type: SiteQuality
SIO_000300: -4.664e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.73e-1

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3598
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3555
bin: 6.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.674e0

MQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.879e0

FS
type: SiteQuality
SIO_000300: 5.192e0

QD
type: SiteQuality
SIO_000300: 4.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

DP
type: SiteQuality
SIO_000300: 2.743865e6

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 883
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.225640397107489e-4
allele num: 16318
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.741897e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 6.136e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.58e1

MQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.478e-1

GenotypeQuality
all individuals: 2108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
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variant carriers: 0

GenotypeQuality
all individuals: 3590
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.741729e6

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.313e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.396e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
all individuals: 704
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
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variant carriers: 0

GenotypeQuality
all individuals: 3597
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.742271e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.314e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.164e1

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

GenotypeQuality
all individuals: 875
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
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variant carriers: 0

GenotypeQuality
all individuals: 575
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variant carriers: 1

GenotypeQuality
all individuals: 415
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.15973377703827e-4
allele num: 2404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28134
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3758
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.805e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 7.89e0

DP
type: SiteQuality
SIO_000300: 7.08814e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
all individuals: 15025
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
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variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2836
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.871958068139274e-4
allele num: 5342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5016
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.88997e5

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.712e0

QD
type: SiteQuality
SIO_000300: 3.06e1

FS
type: SiteQuality
SIO_000300: 1.852e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.149e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

GenotypeQuality
all individuals: 1455
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
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GenotypeQuality
all individuals: 604
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variant carriers: 1

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.083184312758217e-5
allele num: 32434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

DP
type: SiteQuality
SIO_000300: 8.00358e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.24e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 272
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variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.805049088359046e-5
allele num: 35650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQRankSum
type: SiteQuality
SIO_000300: -1.189e0

VQSLOD
type: SiteQuality
SIO_000300: -1.005e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.818e1

DP
type: SiteQuality
SIO_000300: 8.58685e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeQuality
all individuals: 357
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
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GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 316
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variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.150391429748661e-5
allele num: 38832
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.18114e5

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

QD
type: SiteQuality
SIO_000300: 1.18e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 284
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.919708029197081e-4
allele num: 6850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6792
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 7.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

DP
type: SiteQuality
SIO_000300: 9.73111e5

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 9.75e1
variant carriers: 50

GenotypeQuality
all individuals: 282
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variant carriers: 0

GenotypeQuality
all individuals: 608
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variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27896
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 53
allele frequency: 6.686853393893515e-3
allele num: 7926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5672
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.542e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 9.95786e5

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

GenotypeQuality
all individuals: 596
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.199904007679386e-4
allele num: 8334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10610
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.837e0

MQ
type: SiteQuality
SIO_000300: 5.841e1

FS
type: SiteQuality
SIO_000300: 6.095e0

QD
type: SiteQuality
SIO_000300: 1.088e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e0

DP
type: SiteQuality
SIO_000300: 1.157287e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 454
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variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.734408843080141e-5
allele num: 53556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.123e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.673e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 7.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.68e-1

DP
type: SiteQuality
SIO_000300: 1.167242e6

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3572
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.039956608208281e-5
allele num: 11062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

DP
type: SiteQuality
SIO_000300: 1.17531e6

FS
type: SiteQuality
SIO_000300: 2.831e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.536e0

MQ
type: SiteQuality
SIO_000300: 5.706e1

VQSLOD
type: SiteQuality
SIO_000300: -1.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

QD
type: SiteQuality
SIO_000300: 6.78e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 818
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GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10690
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.754820936639118e-4
allele num: 7260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12752
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.587e0

FS
type: SiteQuality
SIO_000300: 1.303e0

VQSLOD
type: SiteQuality
SIO_000300: -2.6e-2

QD
type: SiteQuality
SIO_000300: 7.59e0

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

DP
type: SiteQuality
SIO_000300: 1.24529e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 364
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4607
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variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.655738790648387e-5
allele num: 60396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9516
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14034
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 8.587e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

VQSLOD
type: SiteQuality
SIO_000300: -1.646e0

QD
type: SiteQuality
SIO_000300: 7.6e0

DP
type: SiteQuality
SIO_000300: 1.297831e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 378
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1553
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GenotypeQuality
all individuals: 388
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.335328961956349e-5
allele num: 63138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.206854936036688e-4
allele num: 8286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15366
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

FS
type: SiteQuality
SIO_000300: 8.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

DP
type: SiteQuality
SIO_000300: 1.357911e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.85e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 393
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558360604643914e-5
allele num: 64170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

FS
type: SiteQuality
SIO_000300: 7.643e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.667e0

DP
type: SiteQuality
SIO_000300: 1.378689e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.207e0

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64426
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.280618012812461e-5
allele num: 15922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.4e-1

FS
type: SiteQuality
SIO_000300: 1.0231e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.92e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.382597e6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552168379225778e-5
allele num: 64426
num of homozygotes: 0

Other
type: Population
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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: 8460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.4e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0231e1

DP
type: SiteQuality
SIO_000300: 1.382597e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.92e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.536239899222663e-5
allele num: 65094
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16174
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.398187e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 420
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GenotypeQuality
all individuals: 403
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.431e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

FS
type: SiteQuality
SIO_000300: 3.256e0

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

DP
type: SiteQuality
SIO_000300: 1.399239e6

QD
type: SiteQuality
SIO_000300: 1.273e1

GenotypeQuality
all individuals: 349
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
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GenotypeQuality
all individuals: 424
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 9.75e1
variant carriers: 11

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.755034144633164e-5
allele num: 11422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

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

South Asian
type: Population
allele count: 10
allele frequency: 6.172077521293668e-4
allele num: 16202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.694e0

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

QD
type: SiteQuality
SIO_000300: 1.105e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.40173e6

GenotypeQuality
all individuals: 5776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
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variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522579859313621e-5
allele num: 65678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.373e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 1.5433e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.903e0

DP
type: SiteQuality
SIO_000300: 1.412856e6

GenotypeQuality
all individuals: 46632
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 448
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517266492686776e-5
allele num: 65908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e0

QD
type: SiteQuality
SIO_000300: 1.523e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.195e0

VQSLOD
type: SiteQuality
SIO_000300: -1.757e0

DP
type: SiteQuality
SIO_000300: 1.418136e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.248e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.141e0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 5879
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 24
allele frequency: 2.317049623479436e-3
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65934
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

DP
type: SiteQuality
SIO_000300: 1.419551e6

QD
type: SiteQuality
SIO_000300: 1.482e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.28e0

GenotypeQuality
all individuals: 1975
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020235578375113e-5
allele num: 66220
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.929e0

VQSLOD
type: SiteQuality
SIO_000300: 8.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.425954e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.262e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47164
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 1.431233e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-3

QD
type: SiteQuality
SIO_000300: 1.245e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.502e0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

FS
type: SiteQuality
SIO_000300: 1.086e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 5.922e1

GenotypeQuality
all individuals: 6052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

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

East Asian
type: Population
allele count: 14
allele frequency: 1.619245894055054e-3
allele num: 8646
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.45e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

FS
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.233e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

DP
type: SiteQuality
SIO_000300: 1.433314e6

GenotypeQuality
all individuals: 426
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 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: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.223e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.436e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

FS
type: SiteQuality
SIO_000300: 4.021e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.151e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 473
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
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: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 9.52e0

DP
type: SiteQuality
SIO_000300: 1.436825e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

FS
type: SiteQuality
SIO_000300: 5.835e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 2011
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variant carriers: 0

GenotypeQuality
all individuals: 47482
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

East Asian
type: Population
allele count: 9
allele frequency: 1.039981511439797e-3
allele num: 8654
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

DP
type: SiteQuality
SIO_000300: 1.437838e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.393e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

GenotypeQuality
all individuals: 6
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variant carriers: 0

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

GenotypeQuality
all individuals: 6099
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 7.75e1
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: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.393e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.437838e6

GenotypeQuality
all individuals: 2012
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 805
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
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: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.84e-1

QD
type: SiteQuality
SIO_000300: 1.445e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.08e-1

DP
type: SiteQuality
SIO_000300: 1.437621e6

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

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

GenotypeQuality
all individuals: 809
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49802087081684e-5
allele num: 66696
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: 16504
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: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.278e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 1.777e0

DP
type: SiteQuality
SIO_000300: 1.438052e6

QD
type: SiteQuality
SIO_000300: 1.375e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.102e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1969
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 9.75e1
variant carriers: 1

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: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
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: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.802e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.416e0

DP
type: SiteQuality
SIO_000300: 1.438315e6

FS
type: SiteQuality
SIO_000300: 7.023e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.099e1

MQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0