15-43494126-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494126
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494126
    reference: chr 15
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1829T>C
  hgvsp: ENSP00000396616.2:p.Leu610Pro
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1919T>C
  hgvsp: ENSP00000300215.3:p.Leu640Pro
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1527T>C
  hgvsp: ENST00000568508.1:c.1527T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1595T>C
  hgvsp: ENSP00000444699.1:p.Leu532Pro
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.363T>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1344T>C
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  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: 6392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu640Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

15-43494137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494137
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494137
    reference: chr 15
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.352C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1584C>T
  hgvsp: ENST00000540029.1:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1516C>T
  hgvsp: ENSP00000457140.1:p.Leu506Phe
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1818C>T
  hgvsp: ENST00000441366.2:c.1818C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1908C>T
  hgvsp: ENST00000300215.3:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1333C>T
  variant of: http://identifiers.org/hgnc/3381
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6391
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23712
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu506Phe
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

15-43494145-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494145
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494145
    reference: chr 15
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1508C>G
  hgvsp: ENSP00000457140.1:p.Pro503Arg
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1576C>G
  hgvsp: ENSP00000444699.1:p.Leu526Val
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1810C>G
  hgvsp: ENSP00000396616.2:p.Leu604Val
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.344C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1325C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1900C>G
  hgvsp: ENSP00000300215.3:p.Leu634Val
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6391
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12649
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu634Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

15-43494147-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494147
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494147
    reference: chr 15
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1323C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1898C>G
  hgvsp: ENSP00000300215.3:p.Pro633Arg
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1808C>G
  hgvsp: ENSP00000396616.2:p.Pro603Arg
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1574C>G
  hgvsp: ENSP00000444699.1:p.Pro525Arg
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1506C>G
  hgvsp: ENST00000568508.1:c.1506C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.342C>G
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.75e1
  variant carriers: 0
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: 1475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6389
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro633Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

15-43494159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494159
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494159
    reference: chr 15
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1796A>G
  hgvsp: ENSP00000396616.2:p.Glu599Gly
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1886A>G
  hgvsp: ENSP00000300215.3:p.Glu629Gly
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1494A>G
  hgvsp: ENST00000568508.1:c.1494A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1311A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1562A>G
  hgvsp: ENSP00000444699.1:p.Glu521Gly
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.330A>G
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  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: 4871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23709
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu629Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

15-43494160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494160
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494160
    reference: chr 15
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1310G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1885G>A
  hgvsp: ENSP00000300215.3:p.Glu629Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.329G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1561G>A
  hgvsp: ENSP00000444699.1:p.Glu521Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1493G>A
  hgvsp: ENSP00000457140.1:p.Arg498Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1795G>A
  hgvsp: ENSP00000396616.2:p.Glu599Lys
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  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: 975
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu629Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

15-43494167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494167
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494167
    reference: chr 15
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.322G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1878G>A
  hgvsp: ENST00000300215.3:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1788G>A
  hgvsp: ENST00000441366.2:c.1788G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1554G>A
  hgvsp: ENST00000540029.1:c.1554G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1486G>A
  hgvsp: ENSP00000457140.1:p.Glu496Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1303G>A
  variant of: http://identifiers.org/hgnc/3381
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23703
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4871
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu496Lys
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

15-43494169-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494169
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494169
    reference: chr 15
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1786G>A
  hgvsp: ENSP00000396616.2:p.Glu596Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.320G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1484G>A
  hgvsp: ENSP00000457140.1:p.Arg495Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1552G>A
  hgvsp: ENSP00000444699.1:p.Glu518Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1876G>A
  hgvsp: ENSP00000300215.3:p.Glu626Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1301G>A
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu626Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

15-43494173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494173
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494173
    reference: chr 15
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1297G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1480G>A
  hgvsp: ENSP00000457140.1:p.Ala494Thr
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1782G>A
  hgvsp: ENSP00000396616.2:p.Met594Ile
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1548G>A
  hgvsp: ENSP00000444699.1:p.Met516Ile
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1872G>A
  hgvsp: ENSP00000300215.3:p.Met624Ile
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.316G>A
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met624Ile
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

15-43494192-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494192
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494192
    reference: chr 15
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1870-17A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-17A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1780-17A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.314-17A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1546-17A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1295-17A>G
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23688
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

15-43494194-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494194
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494194
    reference: chr 15
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1295-19G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.314-19G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1546-19G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1870-19G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1780-19G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-19G>A
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4835
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-43494198-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494198
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494198
    reference: chr 15
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1546-23C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-23C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1870-23C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1780-23C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1295-23C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.314-23C>G
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23677
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

15-43494208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494208
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494208
    reference: chr 15
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1546-33G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.314-33G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1295-33G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-33G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1780-33G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1870-33G>A
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

15-43494213-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43494213
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43494213
    reference: chr 15
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1870-38C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-38C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.314-38C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1780-38C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1295-38C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1546-38C>G
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23630
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10794
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

15-43495262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495262
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495262
    reference: chr 15
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1869+51C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1545+51C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1294+51C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1087C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.313+51C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1779+51C>T
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

15-43495264-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495264
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495264
    reference: chr 15
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1869+49T>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1545+49T>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1779+49T>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1294+49T>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1089T>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.313+49T>C
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

15-43495270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495270
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495270
    reference: chr 15
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1869+43C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.313+43C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1779+43C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1294+43C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1095C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1545+43C>T
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 7.25e1
  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: 1467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

15-43495273-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495273
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495273
    reference: chr 15
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1779+40C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1294+40C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1098C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1869+40C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.313+40C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1545+40C>T
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31896
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

15-43495274-T-TGGCAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495274
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495279
    reference: chr 15
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: TGGCAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.313+34_313+38dupCTGCC
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1294+34_1294+38dupCTGCC
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1779+34_1779+38dupCTGCC
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1104_1478-1100dupCTGCC
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1869+34_1869+38dupCTGCC
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1545+34_1545+38dupCTGCC
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11658
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

15-43495281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495281
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495281
    reference: chr 15
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1545+32G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1106G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1294+32G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1869+32G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.313+32G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1779+32G>A
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11657
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

15-43495282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495282
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495282
    reference: chr 15
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1294+31C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1869+31C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1545+31C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1107C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.313+31C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1779+31C>T
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11655
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

15-43495284-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495284
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495284
    reference: chr 15
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1545+29C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.313+29C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1869+29C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1779+29C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1109C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1294+29C>T
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  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: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11653
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-43495292-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495292
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495290
    reference: chr 15
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1545+19_1545+20delCT
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1119_1478-1118delCT
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1294+19_1294+20delCT
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1779+19_1779+20delCT
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.313+19_313+20delCT
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1869+19_1869+20delCT
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: CAG
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

15-43495303-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495303
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495303
    reference: chr 15
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1545+10A>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1869+10A>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1128A>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1779+10A>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.313+10A>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1294+10A>C
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

15-43495306-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495306
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495306
    reference: chr 15
allele count: 12
allele frequency: 9.883701775771753e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1294+7A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1779+7A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1545+7A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1131A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1869+7A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.313+7A>G
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9085
  bin: 6.75e1
  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: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1869+7A>G
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

15-43495310-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495310
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495310
    reference: chr 15
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1135A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1294+3A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1545+3A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.313+3A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1779+3A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1869+3A>G
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 9.25e1
  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: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1869+3A>G
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

15-43495325-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495325
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495325
    reference: chr 15
allele count: 216
allele frequency: 1.779066319638916e-3
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.301C>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1857C>A
  hgvsp: ENSP00000300215.3:p.His619Gln
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1150C>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1533C>A
  hgvsp: ENSP00000444699.1:p.His511Gln
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1767C>A
  hgvsp: ENSP00000396616.2:p.His589Gln
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1282C>A
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 13558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 9.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11648
  bin: 9.75e1
  variant carriers: 211
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His619Gln
num of homozygotes: 5
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

15-43495332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495332
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495332
    reference: chr 15
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1275G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1526G>A
  hgvsp: ENSP00000444699.1:p.Arg509Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1157G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.294G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1760G>A
  hgvsp: ENSP00000396616.2:p.Arg587Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1850G>A
  hgvsp: ENSP00000300215.3:p.Arg617Lys
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  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: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg617Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

15-43495348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495348
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495348
    reference: chr 15
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1834G>A
  hgvsp: ENSP00000300215.3:p.Asp612Asn
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1173G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1510G>A
  hgvsp: ENSP00000444699.1:p.Asp504Asn
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1744G>A
  hgvsp: ENSP00000396616.2:p.Asp582Asn
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.278G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1259G>A
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11486
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp612Asn
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

15-43495349-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495349
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495349
    reference: chr 15
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1833A>C
  hgvsp: ENSP00000300215.3:p.Glu611Asp
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1743A>C
  hgvsp: ENSP00000396616.2:p.Glu581Asp
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1509A>C
  hgvsp: ENSP00000444699.1:p.Glu503Asp
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1258A>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.277A>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1174A>C
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11485
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu611Asp
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

15-43495354-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495354
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495354
    reference: chr 15
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1179C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1253C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1504C>T
  hgvsp: ENSP00000444699.1:p.Gln502Ter
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1738C>T
  hgvsp: ENSP00000396616.2:p.Gln580Ter
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1828C>T
  hgvsp: ENSP00000300215.3:p.Gln610Ter
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.272C>T
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln610Ter
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

15-43495356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495356
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495356
    reference: chr 15
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.270C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1251C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1826C>T
  hgvsp: ENSP00000300215.3:p.Ala609Val
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1736C>T
  hgvsp: ENSP00000396616.2:p.Ala579Val
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1502C>T
  hgvsp: ENSP00000444699.1:p.Ala501Val
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1181C>T
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala609Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

15-43495370-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495370
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495370
    reference: chr 15
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.256C>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1237C>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1812C>A
  hgvsp: ENSP00000300215.3:p.Asn604Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1195C>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1722C>A
  hgvsp: ENSP00000396616.2:p.Asn574Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1488C>A
  hgvsp: ENSP00000444699.1:p.Asn496Lys
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn604Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

15-43495376-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495376
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495376
    reference: chr 15
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1482A>G
  hgvsp: ENST00000540029.1:c.1482A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1231A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.250A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1716A>G
  hgvsp: ENST00000441366.2:c.1716A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1806A>G
  hgvsp: ENST00000300215.3:c.1806A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1201A>G
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu602Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/15-43495378-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495378
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495378
    reference: chr 15
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1804G>T
  hgvsp: ENSP00000300215.3:p.Glu602Ter
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1480G>T
  hgvsp: ENSP00000444699.1:p.Glu494Ter
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1203G>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.248G>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1714G>T
  hgvsp: ENSP00000396616.2:p.Glu572Ter
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1229G>T
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11478
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu602Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

15-43495380-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495380
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495380
    reference: chr 15
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1802C>G
  hgvsp: ENSP00000300215.3:p.Ser601Cys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1712C>G
  hgvsp: ENSP00000396616.2:p.Ser571Cys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1478C>G
  hgvsp: ENSP00000444699.1:p.Ser493Cys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1227C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1205C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.246C>G
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11478
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser601Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS

15-43495386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495386
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495386
    reference: chr 15
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1472C>T
  hgvsp: ENSP00000444699.1:p.Thr491Ile
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1706C>T
  hgvsp: ENSP00000396616.2:p.Thr569Ile
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1211C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1221C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.240C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1796C>T
  hgvsp: ENSP00000300215.3:p.Thr599Ile
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr599Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

15-43495396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495396
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495396
    reference: chr 15
allele count: 8
allele frequency: 6.589134517181169e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1211G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1221G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1696G>A
  hgvsp: ENSP00000396616.2:p.Ala566Thr
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.230G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1786G>A
  hgvsp: ENSP00000300215.3:p.Ala596Thr
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1462G>A
  hgvsp: ENSP00000444699.1:p.Ala488Thr
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11476
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Ala596Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

15-43495397-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495397
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495397
    reference: chr 15
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1210C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1785C>T
  hgvsp: ENST00000300215.3:c.1785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.229C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1461C>T
  hgvsp: ENST00000540029.1:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1222C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1695C>T
  hgvsp: ENST00000441366.2:c.1695C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9125
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr595Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

15-43495406-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495406
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495406
    reference: chr 15
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1686T>C
  hgvsp: ENST00000441366.2:c.1686T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1201T>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1776T>C
  hgvsp: ENST00000300215.3:c.1776T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.220T>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1452T>C
  hgvsp: ENST00000540029.1:c.1452T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1231T>C
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11469
  bin: 9.75e1
  variant carriers: 1
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: 1.75e1
  variant carriers: 0
hgvs: p.Leu592Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

15-43495409-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495409
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495408
    reference: chr 15
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1772delT
  hgvsp: ENSP00000300215.3:p.Phe591SerfsTer54
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1448delT
  hgvsp: ENSP00000444699.1:p.Phe483SerfsTer54
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1682delT
  hgvsp: ENSP00000396616.2:p.Phe561SerfsTer54
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.216delT
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1197delT
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1235delT
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11468
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe591SerfsTer54
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: GA
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

15-43495413-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495413
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495413
    reference: chr 15
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1679C>A
  hgvsp: ENSP00000396616.2:p.Thr560Asn
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1445C>A
  hgvsp: ENSP00000444699.1:p.Thr482Asn
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1769C>A
  hgvsp: ENSP00000300215.3:p.Thr590Asn
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1238C>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.213C>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1194C>A
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32073
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr590Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

15-43495419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495419
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495419
    reference: chr 15
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1673A>G
  hgvsp: ENSP00000396616.2:p.Glu558Gly
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1188A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.207A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1763A>G
  hgvsp: ENSP00000300215.3:p.Glu588Gly
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1439A>G
  hgvsp: ENSP00000444699.1:p.Glu480Gly
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1244A>G
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu588Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

15-43495420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495420
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495420
    reference: chr 15
allele count: 61
allele frequency: 5.024463370838344e-4
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1762G>A
  hgvsp: ENSP00000300215.3:p.Glu588Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1187G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1245G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1438G>A
  hgvsp: ENSP00000444699.1:p.Glu480Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1672G>A
  hgvsp: ENSP00000396616.2:p.Glu558Lys
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.206G>A
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.25e1
  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: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11467
  bin: 9.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu588Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

15-43495421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495421
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495421
    reference: chr 15
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1246C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1437C>T
  hgvsp: ENST00000540029.1:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1186C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1761C>T
  hgvsp: ENST00000300215.3:c.1761C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1671C>T
  hgvsp: ENST00000441366.2:c.1671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.205C>T
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro587Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

15-43495421-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495421
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495421
    reference: chr 15
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1761C>A
  hgvsp: ENST00000300215.3:c.1761C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1246C>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1437C>A
  hgvsp: ENST00000540029.1:c.1437C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1186C>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1671C>A
  hgvsp: ENST00000441366.2:c.1671C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.205C>A
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  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: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro587Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

15-43495425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495425
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495425
    reference: chr 15
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1757C>T
  hgvsp: ENSP00000300215.3:p.Pro586Leu
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.201C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1250C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1433C>T
  hgvsp: ENSP00000444699.1:p.Pro478Leu
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1667C>T
  hgvsp: ENSP00000396616.2:p.Pro556Leu
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1182C>T
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro586Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

15-43495431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495431
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495431
    reference: chr 15
allele count: 5
allele frequency: 4.118616144975288e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1661G>A
  hgvsp: ENSP00000396616.2:p.Arg554Gln
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1751G>A
  hgvsp: ENSP00000300215.3:p.Arg584Gln
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1176G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.195G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1427G>A
  hgvsp: ENSP00000444699.1:p.Arg476Gln
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1256G>A
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32100
  bin: 6.25e1
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg584Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

15-43495432-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495432
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495432
    reference: chr 15
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.194C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1257C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1750C>T
  hgvsp: ENSP00000300215.3:p.Arg584Ter
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1426C>T
  hgvsp: ENSP00000444699.1:p.Arg476Ter
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1175C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1660C>T
  hgvsp: ENSP00000396616.2:p.Arg554Ter
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  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
hgvs: p.Arg584Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

15-43495435-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495435
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495435
    reference: chr 15
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1260G>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.191G>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1172G>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1747G>C
  hgvsp: ENSP00000300215.3:p.Glu583Gln
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1657G>C
  hgvsp: ENSP00000396616.2:p.Glu553Gln
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1423G>C
  hgvsp: ENSP00000444699.1:p.Glu475Gln
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu583Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

15-43495440-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495440
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495440
    reference: chr 15
allele count: 11
allele frequency: 9.06140336425194e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1167A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1265A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.186A>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1652A>G
  hgvsp: ENSP00000396616.2:p.Asn551Ser
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1742A>G
  hgvsp: ENSP00000300215.3:p.Asn581Ser
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1418A>G
  hgvsp: ENSP00000444699.1:p.Asn473Ser
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn581Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

15-43495442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495442
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495442
    reference: chr 15
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1165C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1740C>T
  hgvsp: ENST00000300215.3:c.1740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1650C>T
  hgvsp: ENST00000441366.2:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1267C>T
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1416C>T
  hgvsp: ENST00000540029.1:c.1416C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.184C>T
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 7.75e1
  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: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser580Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

15-43495444-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495444
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495444
    reference: chr 15
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1163T>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.182T>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1269T>C
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1414T>C
  hgvsp: ENSP00000444699.1:p.Ser472Pro
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1648T>C
  hgvsp: ENSP00000396616.2:p.Ser550Pro
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1738T>C
  hgvsp: ENSP00000300215.3:p.Ser580Pro
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser580Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

15-43495448-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495448
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495448
    reference: chr 15
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1734C>G
  hgvsp: ENSP00000300215.3:p.Phe578Leu
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1273C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.178C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1644C>G
  hgvsp: ENSP00000396616.2:p.Phe548Leu
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1159C>G
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1410C>G
  hgvsp: ENSP00000444699.1:p.Phe470Leu
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11398
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe578Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

15-43495454-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495454
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495454
    reference: chr 15
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.172C>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1638C>A
  hgvsp: ENST00000441366.2:c.1638C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1279C>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1404C>A
  hgvsp: ENST00000540029.1:c.1404C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1728C>A
  hgvsp: ENST00000300215.3:c.1728C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1153C>A
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11394
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  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: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32080
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly576Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

15-43495456-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43495456
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 43495456
    reference: chr 15
allele count: 12
allele frequency: 9.888099672044694e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000396616
  ensembl transcript: ENST00000441366
  gene symbol: EPB42
  hgvsc: ENST00000441366.2:c.1636G>A
  hgvsp: ENSP00000396616.2:p.Gly546Ser
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000300215
  ensembl transcript: ENST00000300215
  gene symbol: EPB42
  hgvsc: ENST00000300215.3:c.1726G>A
  hgvsp: ENSP00000300215.3:p.Gly576Ser
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000457140
  ensembl transcript: ENST00000568508
  gene symbol: EPB42
  hgvsc: ENST00000568508.1:c.1478-1281G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000567019
  gene symbol: EPB42
  hgvsc: ENST00000567019.1:n.1151G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166947
  ensembl transcript: ENST00000563128
  gene symbol: EPB42
  hgvsc: ENST00000563128.1:n.170G>A
  variant of: http://identifiers.org/hgnc/3381
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166947
  ensembl protein: ENSP00000444699
  ensembl transcript: ENST00000540029
  gene symbol: EPB42
  hgvsc: ENST00000540029.1:c.1402G>A
  hgvsp: ENSP00000444699.1:p.Gly468Ser
  variant of: http://identifiers.org/hgnc/3381
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly576Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-2012968-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2012968
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2012968
    reference: chr 16
allele count: 1
allele frequency: 8.463960456376747e-6
allele num: 118148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-58G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-58G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.563G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.562G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+182G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-58G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.513G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-58G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.820G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-58G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-58G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-58G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-58G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-58G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-58G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-58G>T
  variant of: http://identifiers.org/hgnc/10404
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD

16-2012970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2012970
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2012970
    reference: chr 16
allele count: 5
allele frequency: 4.231622065370098e-5
allele num: 118158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.560G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.511G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-60G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-60G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-60G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-60G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.818G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-60G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-60G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-60G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.561G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-60G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-60G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+180G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-60G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-60G>A
  variant of: http://identifiers.org/hgnc/10404
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

16-2012978-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2012978
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2012978
    reference: chr 16
allele count: 3
allele frequency: 2.539145154464664e-5
allele num: 118150
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-68C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-68C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-68C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+172C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.552C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-68C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.810C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.553C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-68C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-68C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207405
  ensembl transcript: ENST00000384674
  gene symbol: SNORA64
  hgvsc: ENST00000384674.1:n.130C>G
  variant of: http://identifiers.org/hgnc/10221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-68C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-68C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-68C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-68C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-68C>G
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.503C>G
  variant of: http://identifiers.org/hgnc/10404
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/16-2012982-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2012982
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2012982
    reference: chr 16
allele count: 1
allele frequency: 8.467257116729607e-6
allele num: 118102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-72G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-72G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-72G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-72G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.499G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207405
  ensembl transcript: ENST00000384674
  gene symbol: SNORA64
  hgvsc: ENST00000384674.1:n.126G>T
  variant of: http://identifiers.org/hgnc/10221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-72G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-72G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-72G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.806G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-72G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-72G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.549G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.548G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+168G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-72G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-72G>T
  variant of: http://identifiers.org/hgnc/10404
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-2012987-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2012987
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2012987
    reference: chr 16
allele count: 1
allele frequency: 8.468691248454463e-6
allele num: 118082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.544G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+163G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-77G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.543G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-77G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-77G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-77G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-77G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.801G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-77G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-77G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.494G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207405
  ensembl transcript: ENST00000384674
  gene symbol: SNORA64
  hgvsc: ENST00000384674.1:n.121G>C
  variant of: http://identifiers.org/hgnc/10221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-77G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-77G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-77G>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-77G>C
  variant of: http://identifiers.org/hgnc/10404
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

16-2012991-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2012991
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2012991
    reference: chr 16
allele count: 8
allele frequency: 6.778397247970718e-5
allele num: 118022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-81T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-81T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-81T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207405
  ensembl transcript: ENST00000384674
  gene symbol: SNORA64
  hgvsc: ENST00000384674.1:n.117T>C
  variant of: http://identifiers.org/hgnc/10221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.797T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-81T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.540T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-81T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-81T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-81T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-81T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-81T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+159T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.539T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.490T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-81T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-81T>C
  variant of: http://identifiers.org/hgnc/10404
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

16-2013001-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2013001
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2013001
    reference: chr 16
allele count: 2
allele frequency: 1.695633743111488e-5
allele num: 117950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-91C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-91C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.787C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-91C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.480C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-91C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-91C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207405
  ensembl transcript: ENST00000384674
  gene symbol: SNORA64
  hgvsc: ENST00000384674.1:n.107C>T
  variant of: http://identifiers.org/hgnc/10221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-91C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+149C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.529C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-91C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.530C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-91C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-91C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-91C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-91C>T
  variant of: http://identifiers.org/hgnc/10404
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff

16-2013002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2013002
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2013002
    reference: chr 16
allele count: 3
allele frequency: 2.545004156840123e-5
allele num: 117878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-92C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.528C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-92C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207405
  ensembl transcript: ENST00000384674
  gene symbol: SNORA64
  hgvsc: ENST00000384674.1:n.106C>T
  variant of: http://identifiers.org/hgnc/10221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-92C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-92C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-92C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.786C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-92C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+148C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.529C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-92C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-92C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.479C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-92C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-92C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-92C>T
  variant of: http://identifiers.org/hgnc/10404
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15975
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

16-2013007-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2013007
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2013007
    reference: chr 16
allele count: 1
allele frequency: 8.489108473828079e-6
allele num: 117798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.474T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.523T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-97T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-97T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-97T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.524T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.781T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-97T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207405
  ensembl transcript: ENST00000384674
  gene symbol: SNORA64
  hgvsc: ENST00000384674.1:n.101T>C
  variant of: http://identifiers.org/hgnc/10221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-97T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-97T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-97T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-97T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+143T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-97T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-97T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-97T>C
  variant of: http://identifiers.org/hgnc/10404
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

16-2013012-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2013012
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2013012
    reference: chr 16
allele count: 2
allele frequency: 1.700448918514488e-5
allele num: 117616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.519C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-102C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-102C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.469C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-102C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207405
  ensembl transcript: ENST00000384674
  gene symbol: SNORA64
  hgvsc: ENST00000384674.1:n.96C>T
  variant of: http://identifiers.org/hgnc/10221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-102C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-102C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.776C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-102C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-102C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+138C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-102C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.518C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-102C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-102C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-102C>T
  variant of: http://identifiers.org/hgnc/10404
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-2013017-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2013017
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2013017
    reference: chr 16
allele count: 242
allele frequency: 2.058943642798802e-3
allele num: 117536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.464T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.513T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-107T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207405
  ensembl transcript: ENST00000384674
  gene symbol: SNORA64
  hgvsc: ENST00000384674.1:n.91T>C
  variant of: http://identifiers.org/hgnc/10221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-107T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-107T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-107T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-107T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.514T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-107T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.771T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+133T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-107T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-107T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-107T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-107T>C
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-107T>C
  variant of: http://identifiers.org/hgnc/10404
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 39383
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15818
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
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: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

16-2013019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2013019
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2013019
    reference: chr 16
allele count: 3
allele frequency: 2.554843984194032e-5
allele num: 117424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.511G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-109G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.769G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.512G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-109G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-109G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-109G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-109G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-109G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-109G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207405
  ensembl transcript: ENST00000384674
  gene symbol: SNORA64
  hgvsc: ENST00000384674.1:n.89G>A
  variant of: http://identifiers.org/hgnc/10221
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-109G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-109G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-109G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-109G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.462G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+131G>A
  variant of: http://identifiers.org/hgnc/10404
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-2013020-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2013020
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2013020
    reference: chr 16
allele count: 1
allele frequency: 8.522243054371911e-6
allele num: 117340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.510G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+130G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-110G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207405
  ensembl transcript: ENST00000384674
  gene symbol: SNORA64
  hgvsc: ENST00000384674.1:n.88G>T
  variant of: http://identifiers.org/hgnc/10221
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.768G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-110G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-110G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-110G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-110G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.461G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-110G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-110G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.511G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-110G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-110G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-110G>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-110G>T
  variant of: http://identifiers.org/hgnc/10404
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

16-2013020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2013020
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2013020
    reference: chr 16
allele count: 2
allele frequency: 1.704448610874382e-5
allele num: 117340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.461G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-110G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436227
  ensembl transcript: ENST00000533186
  gene symbol: RPS2
  hgvsc: ENST00000533186.1:c.82-110G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000460860
  ensembl transcript: ENST00000526586
  gene symbol: RPS2
  hgvsc: ENST00000526586.2:c.109-110G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-110G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-110G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527109
  gene symbol: RPS2
  hgvsc: ENST00000527109.1:n.510G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.768G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000534461
  gene symbol: RPS2
  hgvsc: ENST00000534461.1:n.199-110G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.511G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-110G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-110G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-110G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-110G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+130G>A
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207405
  ensembl transcript: ENST00000384674
  gene symbol: SNORA64
  hgvsc: ENST00000384674.1:n.88G>A
  variant of: http://identifiers.org/hgnc/10221
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000434846
  ensembl transcript: ENST00000532746
  gene symbol: RPS2
  hgvsc: ENST00000532746.1:c.*197-110G>A
  variant of: http://identifiers.org/hgnc/10404
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

16-2013023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2013023
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2013023
    reference: chr 16
allele count: 1
allele frequency: 8.523695874531197e-6
allele num: 117320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533161
  gene symbol: RPS2
  hgvsc: ENST00000533161.1:n.564-113C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436865
  ensembl transcript: ENST00000526522
  gene symbol: RPS2
  hgvsc: ENST00000526522.1:c.375+127C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000436356
  ensembl transcript: ENST00000530225
  gene symbol: RPS2
  hgvsc: ENST00000530225.1:c.376-113C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000207405
  ensembl transcript: ENST00000384674
  gene symbol: SNORA64
  hgvsc: ENST00000384674.1:n.85C>T
  variant of: http://identifiers.org/hgnc/10221
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000341885
  ensembl transcript: ENST00000343262
  gene symbol: RPS2
  hgvsc: ENST00000343262.4:c.376-113C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433170
  ensembl transcript: ENST00000529806
  gene symbol: RPS2
  hgvsc: ENST00000529806.1:c.286-113C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527826
  gene symbol: RPS2
  hgvsc: ENST00000527826.1:n.765C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000533872
  gene symbol: RPS2
  hgvsc: ENST00000533872.1:n.458C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000531065
  gene symbol: RPS2
  hgvsc: ENST00000531065.1:n.1005-113C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000526908
  gene symbol: RPS2
  hgvsc: ENST00000526908.1:n.372-113C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000140988
  ensembl transcript: ENST00000527871
  gene symbol: RPS2
  hgvsc: ENST00000527871.1:n.508C>T
  variant of: http://identifiers.org/hgnc/10404
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140988
  ensembl protein: ENSP00000433034
  ensembl transcript: ENST00000527302
  gene symbol: RPS2
  hgvsc: ENST00000527302.1:c.376-113C>T
  variant of: http://identifiers.org/hgnc/10404
canonical: true
consequence: non coding transcript exon
filter: PASS
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 4357
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3521
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
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: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.584e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.716452e6

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.34e-1

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

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

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4357
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3521
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4876
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 3.103e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.17e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 2.716331e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

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

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

GenotypeQuality
all individuals: 4357
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4876
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23711
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2219
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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: 11572
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

FS
type: SiteQuality
SIO_000300: 1.3939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.39e-1

QD
type: SiteQuality
SIO_000300: 1.118e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.808e0

VQSLOD
type: SiteQuality
SIO_000300: -2.242e0

DP
type: SiteQuality
SIO_000300: 2.716204e6

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

GenotypeQuality
all individuals: 2219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4875
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3521
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23710
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4358
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.629e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 2.716123e6

VQSLOD
type: SiteQuality
SIO_000300: -4.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 9.563000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -6.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.32e1

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

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

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12651
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4355
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6387
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
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: 16512
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 (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 7.243e0

DP
type: SiteQuality
SIO_000300: 2.715704e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

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

GenotypeQuality
all individuals: 4871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23708
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2969
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

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

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: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.715656e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.312e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 4.416e0

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

GenotypeQuality
all individuals: 4354
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2966
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6384
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.986e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.196e1

FS
type: SiteQuality
SIO_000300: 7.311e0

DP
type: SiteQuality
SIO_000300: 2.715209e6

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.96e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.957e0

GenotypeQuality
all individuals: 2217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12652
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6384
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23698
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3519
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4355
bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 6608
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.363e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

FS
type: SiteQuality
SIO_000300: 4.043e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 2.715038e6

VQSLOD
type: SiteQuality
SIO_000300: 2.79e-1

QD
type: SiteQuality
SIO_000300: 1.445e1

MQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3517
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4867
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23697
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
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 (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.118e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.857e0

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 2.714532e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12521
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6329
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4845
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.194e1

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 2.710586e6

FS
type: SiteQuality
SIO_000300: 1.138e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.788e1

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

ClippingRankSum
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SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 2.709689e6

MQ
type: SiteQuality
SIO_000300: 5.912e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.774e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.939e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.706823e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

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

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

Latino
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allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.69485e6

VQSLOD
type: SiteQuality
SIO_000300: 9.92e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

FS
type: SiteQuality
SIO_000300: 1.728e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.455e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.679474e6

FS
type: SiteQuality
SIO_000300: 3.757e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.445e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
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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: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.481006e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.888e0

DP
type: SiteQuality
SIO_000300: 2.480703e6

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 31884
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
type: Population
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: 6612
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.425e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.480273e6

FS
type: SiteQuality
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MQRankSum
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MQ
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.480256e6

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

South Asian
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num of homozygotes: 0

Other
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allele num: 908
num of homozygotes: 0

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

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

South Asian
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allele num: 16512
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East Asian
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allele num: 8654
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Latino
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num of homozygotes: 0

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
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European (Finnish)
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele num: 6614
num of homozygotes: 0

South Asian
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Latino
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African
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allele num: 10406
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.480203e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

FS
type: SiteQuality
SIO_000300: 6.248e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.239e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 743
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 602
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GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.480064e6

FS
type: SiteQuality
SIO_000300: 1.4938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.332e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.149e0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 4.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.028e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

QD
type: SiteQuality
SIO_000300: 1.737e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

DP
type: SiteQuality
SIO_000300: 2.480163e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.48001e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 1.889e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.965e0

QD
type: SiteQuality
SIO_000300: 9.69e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.167e0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 8.25e1
variant carriers: 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: 11578
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.648186994306263e-4
allele num: 66740
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.409e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.480603e6

FS
type: SiteQuality
SIO_000300: 0.0e0

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

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9085
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variant carriers: 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: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.904e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

DP
type: SiteQuality
SIO_000300: 2.479569e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.322e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.395e0

VQSLOD
type: SiteQuality
SIO_000300: -3.25e-2

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 211
allele frequency: 2.027676340572747e-2
allele num: 10406
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

Latino
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allele count: 4
allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.02e-1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
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SIO_000300: 3.9e-2

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -3.74e-1

DP
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

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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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: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Other
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QD
type: SiteQuality
SIO_000300: 1.073e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 2.471484e6

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

Other
type: Population
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allele num: 908
num of homozygotes: 0

South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.535e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

South Asian
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Latino
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num of homozygotes: 0

FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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MQ
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ClippingRankSum
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SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.471402e6

GenotypeQuality
all individuals: 11483
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.47141e6

FS
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.279e1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.852e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.155e0

VQSLOD
type: SiteQuality
SIO_000300: -8.307e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
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SIO_000300: 1.584e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

DP
type: SiteQuality
SIO_000300: 2.471332e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.43e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

MQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

DP
type: SiteQuality
SIO_000300: 2.471809e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.072e0

QD
type: SiteQuality
SIO_000300: 1.259e1

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

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

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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: 66740
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.087e1

FS
type: SiteQuality
SIO_000300: 1.351e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.787e0

DP
type: SiteQuality
SIO_000300: 2.471185e6

GenotypeQuality
all individuals: 2487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
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variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

DP
type: SiteQuality
SIO_000300: 2.471044e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

QD
type: SiteQuality
SIO_000300: 1.347e1

FS
type: SiteQuality
SIO_000300: 3.894e0

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

GenotypeQuality
all individuals: 2726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32075
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
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
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

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

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

FS
type: SiteQuality
SIO_000300: 2.151e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.149e0

DP
type: SiteQuality
SIO_000300: 2.471068e6

MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

QD
type: SiteQuality
SIO_000300: 1.112e1

GenotypeQuality
all individuals: 603
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9123
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variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
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: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 2.471703e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.406e0

DP
type: SiteQuality
SIO_000300: 2.470733e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.446e1

VQSLOD
type: SiteQuality
SIO_000300: 6.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

East Asian
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allele count: 0
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allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.63e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.69e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.470516e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
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: 11578
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.470483e6

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.713e0

MQ
type: SiteQuality
SIO_000300: 6.005e1

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.811e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2727
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9127
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variant carriers: 0

GenotypeQuality
all individuals: 11468
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variant carriers: 1

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: 66736
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.904e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.52e-1

QD
type: SiteQuality
SIO_000300: 1.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.039e0

DP
type: SiteQuality
SIO_000300: 2.470356e6

VQSLOD
type: SiteQuality
SIO_000300: -2.595e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.118e0

GenotypeQuality
all individuals: 744
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 32070
bin: 6.25e1
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GenotypeQuality
all individuals: 1468
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 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: 11576
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.47033e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.349e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
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
type: Population
allele count: 56
allele frequency: 5.381510666922929e-3
allele num: 10406
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.473852e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.49e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.74e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

DP
type: SiteQuality
SIO_000300: 2.4681e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 1.162e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993766482857828e-5
allele num: 66736
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: -3.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.162e0

DP
type: SiteQuality
SIO_000300: 2.4681e6

QD
type: SiteQuality
SIO_000300: 1.22e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 743
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GenotypeQuality
all individuals: 1
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.408e1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 8.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.163e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e0

DP
type: SiteQuality
SIO_000300: 2.467703e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.334e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -7.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

FS
type: SiteQuality
SIO_000300: 9.21e-1

QD
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SIO_000300: 1.296e1

MQRankSum
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SIO_000300: 4.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

Other
type: Population
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allele num: 908
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South Asian
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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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: 6610
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

East Asian
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allele count: 9
allele frequency: 1.039981511439797e-3
allele num: 8654
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South Asian
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allele frequency: 0.0e0
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Latino
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allele num: 11570
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African
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VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
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MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.96e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 9.01e-1

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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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

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

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

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

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 1.63e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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East Asian
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allele frequency: 0.0e0
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South Asian
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African
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allele num: 10406
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Latino
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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QD
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MQ
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.648631635742334e-4
allele num: 66722
num of homozygotes: 0

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

Other
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InbreedingCoeff
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FS
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MQ
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SIO_000300: 5.947e1

ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8374
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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Other
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Latino
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South Asian
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FS
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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South Asian
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African
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Other
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European (Non-Finnish)
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European (Finnish)
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BaseQRankSum
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QD
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MQ
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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South Asian
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East Asian
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European (Non-Finnish)
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.547700117625209e-5
allele num: 64612
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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FS
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QD
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

European (Finnish)
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European (Non-Finnish)
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allele num: 64552
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Other
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South Asian
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
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ReadPosRankSum
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SIO_000300: -1.07e-1

VQSLOD
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 4.3e-3

MQRankSum
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DP
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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allele frequency: 0.0e0
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South Asian
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Other
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African
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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DP
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

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

European (Finnish)
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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: 3.108486167236556e-5
allele num: 64340
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

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -1.232e0

DP
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ReadPosRankSum
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VQSLOD
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SIO_000300: -4.731e-1

MQ
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SIO_000300: 5.76e1

QD
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SIO_000300: 1.445e1

MQRankSum
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SIO_000300: -1.21e-1

FS
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
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SIO_000300: 5.55e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 11

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 24

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 242

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
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allele count: 7
allele frequency: 6.128523901243215e-4
allele num: 11422
num of homozygotes: 0

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

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

African
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allele count: 228
allele frequency: 2.385935537881959e-2
allele num: 9556
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.77339013090389e-5
allele num: 64322
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.392155e6

BaseQRankSum
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SIO_000300: 2.12e0

InbreedingCoeff
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MQ
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SIO_000300: 5.656e1

FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.405e1

ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.589375448671931e-4
allele num: 8358
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64256
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9522
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.493e0

VQSLOD
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DP
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SIO_000300: 1.384995e6

MQ
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SIO_000300: 5.578e1

MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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SIO_000300: -4.751e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8358
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64212
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.857e1

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -6.0e-3

ClippingRankSum
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.38463e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
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SIO_000300: 9.14e-1

InbreedingCoeff
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SIO_000300: 4.2e-3

QD
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64212
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 2
allele frequency: 1.216693028348948e-4
allele num: 16438
num of homozygotes: 0

FS
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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QD
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VQSLOD
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ClippingRankSum
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