1-29435845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435845
    reference: chr 1
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2314-3C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1645-3C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-3035C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2215-3C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2047-3C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2314-3C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1705-3C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000490308
  gene symbol: EPB41
  hgvsc: ENST00000490308.1:n.332-3C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.350-3C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2023-3C>T
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
hgvs: c.2314-3C>T
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

1-29435853-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435853
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435853
    reference: chr 1
allele count: 2
allele frequency: 1.651827747402501e-5
allele num: 121078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1650C>G
  hgvsp: ENSP00000317597.7:p.Asp550Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2319C>G
  hgvsp: ENSP00000362904.1:p.Asp773Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.355C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2052C>G
  hgvsp: ENSP00000290100.6:p.Asp684Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1710C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2319C>G
  hgvsp: ENSP00000345259.4:p.Asp773Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2220C>G
  hgvsp: ENSP00000348397.2:p.Asp740Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2028C>G
  hgvsp: ENSP00000381839.2:p.Asp676Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-3027C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000490308
  gene symbol: EPB41
  hgvsc: ENST00000490308.1:n.337C>G
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp773Glu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-29435853-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435853
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435853
    reference: chr 1
allele count: 3
allele frequency: 2.477741621103751e-5
allele num: 121078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1650C>T
  hgvsp: ENST00000349460.4:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2319C>T
  hgvsp: ENST00000343067.4:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1710C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2220C>T
  hgvsp: ENST00000356093.2:c.2220C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2052C>T
  hgvsp: ENST00000347529.3:c.2052C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.355C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2028C>T
  hgvsp: ENST00000398863.2:c.2028C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2319C>T
  hgvsp: ENST00000373798.1:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000490308
  gene symbol: EPB41
  hgvsc: ENST00000490308.1:n.337C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-3027C>T
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp773Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

1-29435862-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435862
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435862
    reference: chr 1
allele count: 19
allele frequency: 1.567682635026981e-4
allele num: 121198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-3018T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2037T>C
  hgvsp: ENST00000398863.2:c.2037T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2229T>C
  hgvsp: ENST00000356093.2:c.2229T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.364T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1719T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2328T>C
  hgvsp: ENST00000343067.4:c.2328T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1659T>C
  hgvsp: ENST00000349460.4:c.1659T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2328T>C
  hgvsp: ENST00000373798.1:c.2328T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2061T>C
  hgvsp: ENST00000347529.3:c.2061T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000490308
  gene symbol: EPB41
  hgvsc: ENST00000490308.1:n.346T>C
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17165
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35434
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser776Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-29435864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435864
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435864
    reference: chr 1
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000490308
  gene symbol: EPB41
  hgvsc: ENST00000490308.1:n.348G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2231G>A
  hgvsp: ENSP00000348397.2:p.Gly744Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2039G>A
  hgvsp: ENSP00000381839.2:p.Gly680Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1661G>A
  hgvsp: ENSP00000317597.7:p.Gly554Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-3016G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2330G>A
  hgvsp: ENSP00000345259.4:p.Gly777Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2330G>A
  hgvsp: ENSP00000362904.1:p.Gly777Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1721G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.366G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2063G>A
  hgvsp: ENSP00000290100.6:p.Gly688Glu
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10734
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly777Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-29435866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435866
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435866
    reference: chr 1
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2041G>A
  hgvsp: ENSP00000381839.2:p.Asp681Asn
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000490308
  gene symbol: EPB41
  hgvsc: ENST00000490308.1:n.350G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.368G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2332G>A
  hgvsp: ENSP00000362904.1:p.Asp778Asn
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2233G>A
  hgvsp: ENSP00000348397.2:p.Asp745Asn
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1663G>A
  hgvsp: ENSP00000317597.7:p.Asp555Asn
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2065G>A
  hgvsp: ENSP00000290100.6:p.Asp689Asn
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2332G>A
  hgvsp: ENSP00000345259.4:p.Asp778Asn
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1723G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-3014G>A
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17220
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp778Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

1-29435870-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435870
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435870
    reference: chr 1
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2045T>G
  hgvsp: ENSP00000381839.2:p.Leu682Trp
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1727T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2237T>G
  hgvsp: ENSP00000348397.2:p.Leu746Trp
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2336T>G
  hgvsp: ENSP00000345259.4:p.Leu779Trp
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2069T>G
  hgvsp: ENSP00000290100.6:p.Leu690Trp
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-3010T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2336T>G
  hgvsp: ENSP00000362904.1:p.Leu779Trp
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1667T>G
  hgvsp: ENSP00000317597.7:p.Leu556Trp
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000490308
  gene symbol: EPB41
  hgvsc: ENST00000490308.1:n.354T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.372T>G
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu779Trp
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-29435889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435889
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435889
    reference: chr 1
allele count: 17
allele frequency: 1.40136839502102e-4
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2355G>A
  hgvsp: ENST00000373798.1:c.2355G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1746G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1686G>A
  hgvsp: ENST00000349460.4:c.1686G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2355G>A
  hgvsp: ENST00000343067.4:c.2355G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2088G>A
  hgvsp: ENST00000347529.3:c.2088G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2064G>A
  hgvsp: ENST00000398863.2:c.2064G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2256G>A
  hgvsp: ENST00000356093.2:c.2256G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.391G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2991G>A
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu785Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-29435898-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435898
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435898
    reference: chr 1
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2982A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2364A>G
  hgvsp: ENST00000343067.4:c.2364A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2097A>G
  hgvsp: ENST00000347529.3:c.2097A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2265A>G
  hgvsp: ENST00000356093.2:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1695A>G
  hgvsp: ENST00000349460.4:c.1695A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2073A>G
  hgvsp: ENST00000398863.2:c.2073A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1755A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2364A>G
  hgvsp: ENST00000373798.1:c.2364A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.400A>G
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln788Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

1-29435902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435902
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435902
    reference: chr 1
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2368A>G
  hgvsp: ENSP00000362904.1:p.Ile790Val
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2077A>G
  hgvsp: ENSP00000381839.2:p.Ile693Val
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1759A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2368A>G
  hgvsp: ENSP00000345259.4:p.Ile790Val
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2101A>G
  hgvsp: ENSP00000290100.6:p.Ile701Val
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2978A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2269A>G
  hgvsp: ENSP00000348397.2:p.Ile757Val
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1699A>G
  hgvsp: ENSP00000317597.7:p.Ile567Val
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.404A>G
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile790Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-29435908-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435908
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435908
    reference: chr 1
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2107T>A
  hgvsp: ENSP00000290100.6:p.Ser703Thr
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2275T>A
  hgvsp: ENSP00000348397.2:p.Ser759Thr
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2374T>A
  hgvsp: ENSP00000345259.4:p.Ser792Thr
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2972T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1765T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2374T>A
  hgvsp: ENSP00000362904.1:p.Ser792Thr
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2083T>A
  hgvsp: ENSP00000381839.2:p.Ser695Thr
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.410T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1705T>A
  hgvsp: ENSP00000317597.7:p.Ser569Thr
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6237
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser792Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-29435916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435916
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435916
    reference: chr 1
allele count: 2
allele frequency: 1.649130908011478e-5
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2964C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2283C>T
  hgvsp: ENST00000356093.2:c.2283C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2115C>T
  hgvsp: ENST00000347529.3:c.2115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2382C>T
  hgvsp: ENST00000343067.4:c.2382C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2382C>T
  hgvsp: ENST00000373798.1:c.2382C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1713C>T
  hgvsp: ENST00000349460.4:c.1713C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.418C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1773C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2091C>T
  hgvsp: ENST00000398863.2:c.2091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr794Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-29435922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435922
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435922
    reference: chr 1
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2958C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2388C>T
  hgvsp: ENST00000373798.1:c.2388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1719C>T
  hgvsp: ENST00000349460.4:c.1719C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2388C>T
  hgvsp: ENST00000343067.4:c.2388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2289C>T
  hgvsp: ENST00000356093.2:c.2289C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2097C>T
  hgvsp: ENST00000398863.2:c.2097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1779C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.424C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2121C>T
  hgvsp: ENST00000347529.3:c.2121C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser796Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/1-29435926-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435926
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435926
    reference: chr 1
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2125A>C
  hgvsp: ENSP00000290100.6:p.Thr709Pro
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1723A>C
  hgvsp: ENSP00000317597.7:p.Thr575Pro
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2392A>C
  hgvsp: ENSP00000345259.4:p.Thr798Pro
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.428A>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2392A>C
  hgvsp: ENSP00000362904.1:p.Thr798Pro
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2954A>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2293A>C
  hgvsp: ENSP00000348397.2:p.Thr765Pro
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2101A>C
  hgvsp: ENSP00000381839.2:p.Thr701Pro
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1783A>C
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr798Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-29435938-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435938
    reference: chr 1
allele count: 2
allele frequency: 1.651309488424321e-5
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2404C>G
  hgvsp: ENSP00000362904.1:p.Gln802Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2137C>G
  hgvsp: ENSP00000290100.6:p.Gln713Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2404C>G
  hgvsp: ENSP00000345259.4:p.Gln802Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1795C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.440C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2942C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2113C>G
  hgvsp: ENSP00000381839.2:p.Gln705Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1735C>G
  hgvsp: ENSP00000317597.7:p.Gln579Glu
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2305C>G
  hgvsp: ENSP00000348397.2:p.Gln769Glu
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln802Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

1-29435939-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435939
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435939
    reference: chr 1
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.441A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1736A>G
  hgvsp: ENSP00000317597.7:p.Gln579Arg
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2306A>G
  hgvsp: ENSP00000348397.2:p.Gln769Arg
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2405A>G
  hgvsp: ENSP00000362904.1:p.Gln802Arg
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2114A>G
  hgvsp: ENSP00000381839.2:p.Gln705Arg
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2941A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2405A>G
  hgvsp: ENSP00000345259.4:p.Gln802Arg
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2138A>G
  hgvsp: ENSP00000290100.6:p.Gln713Arg
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1796A>G
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln802Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

1-29435958-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435958
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435958
    reference: chr 1
allele count: 3
allele frequency: 2.493682670567895e-5
allele num: 120304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1806+9C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2316+9C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2415+9C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2922C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2148+9C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1746+9C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2124+9C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.460C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2415+9C>G
  variant of: http://identifiers.org/hgnc/3377
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32545
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

1-29435968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435968
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435968
    reference: chr 1
allele count: 5
allele frequency: 4.1779471239012e-5
allele num: 119676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2912C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1806+19C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.470C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2415+19C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2124+19C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2148+19C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2415+19C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1746+19C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2316+19C>T
  variant of: http://identifiers.org/hgnc/3377
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16694
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

1-29435974-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435974
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435974
    reference: chr 1
allele count: 1
allele frequency: 8.380262805041566e-6
allele num: 119328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2124+25T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2415+25T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2148+25T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2906T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.476T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1806+25T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2316+25T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1746+25T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2415+25T>C
  variant of: http://identifiers.org/hgnc/3377
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17523
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5722
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

1-29435974-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435974
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435974
    reference: chr 1
allele count: 197
allele frequency: 1.650911772593189e-3
allele num: 119328
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2415+25T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2148+25T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2906T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2124+25T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1746+25T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.476T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2415+25T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2316+25T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1806+25T>G
  variant of: http://identifiers.org/hgnc/3377
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 3.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17523
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 16085
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10864
  bin: 9.75e1
  variant carriers: 196
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

1-29435975-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435975
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435975
    reference: chr 1
allele count: 1
allele frequency: 8.382651264942076e-6
allele num: 119294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2316+26A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.477A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2148+26A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1806+26A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2905A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2415+26A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2124+26A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1746+26A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2415+26A>G
  variant of: http://identifiers.org/hgnc/3377
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-29435976-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435976
    reference: chr 1
allele count: 5
allele frequency: 4.194067910347604e-5
allele num: 119216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2148+27T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2124+27T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.478T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1806+27T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1746+27T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2415+27T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2415+27T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2904T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2316+27T>A
  variant of: http://identifiers.org/hgnc/3377
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

1-29435982-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435982
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435982
    reference: chr 1
allele count: 1
allele frequency: 8.419492809753141e-6
allele num: 118772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2898C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2148+33C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1746+33C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2124+33C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.484C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2415+33C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2316+33C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1806+33C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2415+33C>G
  variant of: http://identifiers.org/hgnc/3377
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14441
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

1-29435984-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435984
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435984
    reference: chr 1
allele count: 7
allele frequency: 5.901595116851583e-5
allele num: 118612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2896A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.486A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2415+35A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1806+35A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2148+35A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1746+35A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2316+35A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2124+35A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2415+35A>G
  variant of: http://identifiers.org/hgnc/3377
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13293
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

1-29435986-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435986
    reference: chr 1
allele count: 2
allele frequency: 1.688818333811832e-5
allele num: 118426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2415+37G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2148+37G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.488G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1806+37G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1746+37G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2894G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2415+37G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2316+37G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2124+37G>T
  variant of: http://identifiers.org/hgnc/3377
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

1-29435987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435987
    reference: chr 1
allele count: 1
allele frequency: 8.456659619450317e-6
allele num: 118250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1746+38G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2124+38G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2415+38G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2316+38G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2415+38G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1806+38G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2148+38G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.489G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2893G>A
  variant of: http://identifiers.org/hgnc/3377
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-29435988-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29435988
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29435988
    reference: chr 1
allele count: 1
allele frequency: 8.467400508044031e-6
allele num: 118100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-2892G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2316+39G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000462032
  gene symbol: EPB41
  hgvsc: ENST00000462032.1:n.490G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1746+39G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2415+39G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2415+39G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1806+39G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2124+39G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2148+39G>T
  variant of: http://identifiers.org/hgnc/3377
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10716
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-29438829-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438829
    reference: chr 1
allele count: 36
allele frequency: 3.001851141537282e-4
allele num: 119926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-51T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-51T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-51T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-51T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-51T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-51T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-51T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-51T>A
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27399
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-29438829-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438828
    reference: chr 1
allele count: 4
allele frequency: 3.335390157263646e-5
allele num: 119926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-49delA
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-49delA
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-49delA
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-49delA
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-49delA
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-49delA
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-49delA
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-49delA
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: TA
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

1-29438829-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438827
    reference: chr 1
allele count: 6
allele frequency: 5.003085235895469e-5
allele num: 119926
alternate allele: T
canonical: false
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27399
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 6.065200909780136e-5
  allele num: 65950
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6584
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16466
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11504
  num of homozygotes: 0
population: East Asian
population: African
population: Other
reference allele: TAA
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

1-29438829-TAATTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438824
    reference: chr 1
allele count: 19
allele frequency: 1.584310324700232e-4
allele num: 119926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-50_2149-46delAATTC
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-50_1588-46delAATTC
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-50_2317-46delAATTC
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-50_1807-46delAATTC
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-50_2416-46delAATTC
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-50_2416-46delAATTC
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-50_1747-46delAATTC
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-50_2125-46delAATTC
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: TAATTC
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-29438830-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438830
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438830
    reference: chr 1
allele count: 7
allele frequency: 5.86254836602402e-5
allele num: 119402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-50A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-50A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-50A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-50A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-50A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-50A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-50A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-50A>T
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5528
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-29438831-A-ATTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438831
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438834
    reference: chr 1
allele count: 3
allele frequency: 2.501792951615324e-5
allele num: 119914
alternate allele: ATTT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-47_2416-46insTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-47_1807-46insTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-47_1747-46insTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-47_2416-46insTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-47_2125-46insTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-47_2317-46insTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-47_2149-46insTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-47_1588-46insTTT
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 7898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum

1-29438831-A-ATTTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438831
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438836
    reference: chr 1
allele count: 1
allele frequency: 8.339309838717748e-6
allele num: 119914
alternate allele: ATTTTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-47_1807-46insTTTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-47_2125-46insTTTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-47_2416-46insTTTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-47_2317-46insTTTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-47_2149-46insTTTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-47_1588-46insTTTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-47_2416-46insTTTTT
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-47_1747-46insTTTTT
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-29438831-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438831
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438831
    reference: chr 1
allele count: 8
allele frequency: 6.671447870974198e-5
allele num: 119914
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-49A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-49A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-49A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-49A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-49A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-49A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-49A>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-49A>T
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7898
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27392
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

1-29438832-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438832
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438832
    reference: chr 1
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-48T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-48T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-48T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-48T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-48T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-48T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-48T>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-48T>A
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

1-29438834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438834
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438834
    reference: chr 1
allele count: 15
allele frequency: 1.248501797842589e-4
allele num: 120144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-46C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-46C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-46C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-46C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-46C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-46C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-46C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-46C>T
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8749
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-29438837-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438837
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438837
    reference: chr 1
allele count: 15
allele frequency: 1.246924253508014e-4
allele num: 120296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-43G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-43G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-43G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-43G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-43G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-43G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-43G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-43G>T
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8929
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-29438844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438844
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438844
    reference: chr 1
allele count: 43
allele frequency: 3.554188983667262e-4
allele num: 120984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-36C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-36C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-36C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-36C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-36C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-36C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-36C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-36C>T
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10882
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9077
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

1-29438845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438845
    reference: chr 1
allele count: 7
allele frequency: 5.781588119662355e-5
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-35G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-35G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-35G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-35G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-35G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-35G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-35G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-35G>A
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-29438851-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438851
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438851
    reference: chr 1
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-29C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-29C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-29C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-29C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-29C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-29C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-29C>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-29C>G
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-29438856-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438856
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438856
    reference: chr 1
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-24A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-24A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-24A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-24A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-24A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-24A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-24A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-24A>G
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

1-29438859-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438859
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438859
    reference: chr 1
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1588-21A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1807-21A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2416-21A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2416-21A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2149-21A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2125-21A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1747-21A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2317-21A>G
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8002
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

1-29438902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438902
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438902
    reference: chr 1
allele count: 7
allele frequency: 5.765682656826568e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1829A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2438A>G
  hgvsp: ENSP00000345259.4:p.Glu813Gly
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2171A>G
  hgvsp: ENSP00000290100.6:p.Glu724Gly
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2147A>G
  hgvsp: ENSP00000381839.2:p.Glu716Gly
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2438A>G
  hgvsp: ENSP00000362904.1:p.Glu813Gly
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1610A>G
  hgvsp: ENSP00000362906.3:p.Glu537Gly
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1769A>G
  hgvsp: ENSP00000317597.7:p.Glu590Gly
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2339A>G
  hgvsp: ENSP00000348397.2:p.Glu780Gly
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu813Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

1-29438907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438907
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438907
    reference: chr 1
allele count: 39
allele frequency: 3.212308908803374e-4
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1774C>T
  hgvsp: ENSP00000317597.7:p.Arg592Cys
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2344C>T
  hgvsp: ENSP00000348397.2:p.Arg782Cys
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2443C>T
  hgvsp: ENSP00000345259.4:p.Arg815Cys
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2152C>T
  hgvsp: ENSP00000381839.2:p.Arg718Cys
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2443C>T
  hgvsp: ENSP00000362904.1:p.Arg815Cys
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2176C>T
  hgvsp: ENSP00000290100.6:p.Arg726Cys
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1834C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1615C>T
  hgvsp: ENSP00000362906.3:p.Arg539Cys
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5006
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg815Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

1-29438908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438908
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438908
    reference: chr 1
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2444G>A
  hgvsp: ENSP00000362904.1:p.Arg815His
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2345G>A
  hgvsp: ENSP00000348397.2:p.Arg782His
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1835G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1775G>A
  hgvsp: ENSP00000317597.7:p.Arg592His
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1616G>A
  hgvsp: ENSP00000362906.3:p.Arg539His
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2444G>A
  hgvsp: ENSP00000345259.4:p.Arg815His
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2153G>A
  hgvsp: ENSP00000381839.2:p.Arg718His
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2177G>A
  hgvsp: ENSP00000290100.6:p.Arg726His
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10943
  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: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11762
  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: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg815His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

1-29438932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438932
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2468C>T
  hgvsp: ENSP00000345259.4:p.Thr823Ile
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2369C>T
  hgvsp: ENSP00000348397.2:p.Thr790Ile
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1799C>T
  hgvsp: ENSP00000317597.7:p.Thr600Ile
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1859C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2201C>T
  hgvsp: ENSP00000290100.6:p.Thr734Ile
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1640C>T
  hgvsp: ENSP00000362906.3:p.Thr547Ile
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2468C>T
  hgvsp: ENSP00000362904.1:p.Thr823Ile
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2177C>T
  hgvsp: ENSP00000381839.2:p.Thr726Ile
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr823Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-29438944-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438944
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438944
    reference: chr 1
allele count: 6
allele frequency: 4.941932295527551e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1652A>C
  hgvsp: ENSP00000362906.3:p.Asp551Ala
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1871A>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2480A>C
  hgvsp: ENSP00000345259.4:p.Asp827Ala
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2480A>C
  hgvsp: ENSP00000362904.1:p.Asp827Ala
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2189A>C
  hgvsp: ENSP00000381839.2:p.Asp730Ala
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1811A>C
  hgvsp: ENSP00000317597.7:p.Asp604Ala
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2213A>C
  hgvsp: ENSP00000290100.6:p.Asp738Ala
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2381A>C
  hgvsp: ENSP00000348397.2:p.Asp794Ala
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27510
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp827Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-29438950-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438950
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438950
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2486A>C
  hgvsp: ENSP00000345259.4:p.Asp829Ala
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1817A>C
  hgvsp: ENSP00000317597.7:p.Asp606Ala
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2486A>C
  hgvsp: ENSP00000362904.1:p.Asp829Ala
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1658A>C
  hgvsp: ENSP00000362906.3:p.Asp553Ala
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2219A>C
  hgvsp: ENSP00000290100.6:p.Asp740Ala
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2195A>C
  hgvsp: ENSP00000381839.2:p.Asp732Ala
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2387A>C
  hgvsp: ENSP00000348397.2:p.Asp796Ala
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1877A>C
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp829Ala
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-29438963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438963
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438963
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1827+3G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2229+3G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1668+3G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2496+3G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2496+3G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2397+3G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2205+3G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1887+3G>A
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2496+3G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-29438977-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438977
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438977
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2496+17G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2496+17G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1668+17G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2229+17G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1887+17G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2205+17G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1827+17G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2397+17G>C
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

1-29438978-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438978
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438978
    reference: chr 1
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1827+18A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2205+18A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2496+18A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2397+18A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1668+18A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2229+18A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1887+18A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2496+18A>G
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

1-29438983-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438983
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2229+23G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1887+23G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2496+23G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2205+23G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1668+23G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2496+23G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2397+23G>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1827+23G>T
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

1-29438988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438988
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438988
    reference: chr 1
allele count: 6
allele frequency: 4.94323518265254e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1827+28G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2496+28G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1887+28G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2229+28G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2397+28G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2496+28G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2205+28G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1668+28G>A
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

1-29438994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438994
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438994
    reference: chr 1
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1887+34G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2229+34G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2205+34G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2496+34G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2397+34G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1668+34G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2496+34G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1827+34G>A
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

1-29438997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438997
    reference: chr 1
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2229+37C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2496+37C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2496+37C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2205+37C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1887+37C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2397+37C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1827+37C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1668+37C>T
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

1-29438999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29438999
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438999
    reference: chr 1
allele count: 12
allele frequency: 9.888425597837731e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2229+39C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1887+39C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2205+39C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1668+39C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2496+39C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1827+39C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2496+39C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2397+39C>T
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27513
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-29439000-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29439000
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29438999
    reference: chr 1
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2397+43delG
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1827+43delG
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2496+43delG
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1668+43delG
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2496+43delG
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2229+43delG
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2205+43delG
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1887+43delG
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: TG
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS

http://identifiers.org/exac.variant/1-29439008-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29439008
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29439008
    reference: chr 1
allele count: 3
allele frequency: 2.473492406378312e-5
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2496+48A>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2496+48A>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2229+48A>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2205+48A>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1827+48A>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2397+48A>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1887+48A>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1668+48A>C
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-29439010-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29439010
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29439010
    reference: chr 1
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2205+50G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2229+50G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1827+50G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2397+50G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1887+50G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1668+50G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2496+50G>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2496+50G>C
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-29439012-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29439012
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29439012
    reference: chr 1
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2496+52C>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1887+52C>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1668+52C>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1827+52C>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2397+52C>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2229+52C>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2205+52C>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2496+52C>A
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9641
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27514
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

1-29442161-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29442161
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29442161
    reference: chr 1
allele count: 4
allele frequency: 3.375242595561556e-5
allele num: 118510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2497-50C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1669-50C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2398-50C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2497-50C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2206-50C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1828-50C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2230-50C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1888-50C>T
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13841
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9040
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-29442162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29442162
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29442162
    reference: chr 1
allele count: 9
allele frequency: 7.588148997521204e-5
allele num: 118606
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2497-49G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2497-49G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2230-49G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1888-49G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2398-49G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2206-49G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1669-49G>A
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1828-49G>A
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12198
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14915
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-29442165-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29442165
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29442165
    reference: chr 1
allele count: 1
allele frequency: 8.399549784131571e-6
allele num: 119054
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2497-46A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2230-46A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1888-46A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2206-46A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2398-46A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1669-46A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2497-46A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1828-46A>G
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-29442166-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29442166
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29442166
    reference: chr 1
allele count: 1
allele frequency: 8.398421096833796e-6
allele num: 119070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2206-45T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2230-45T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1888-45T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1828-45T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2497-45T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1669-45T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2497-45T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2398-45T>C
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12710
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

1-29442173-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29442173
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29442173
    reference: chr 1
allele count: 2
allele frequency: 1.675743611227482e-5
allele num: 119350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2230-38A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2206-38A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1888-38A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2497-38A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2497-38A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1669-38A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1828-38A>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2398-38A>G
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-29442174-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29442174
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29442174
    reference: chr 1
allele count: 1
allele frequency: 8.374648264772879e-6
allele num: 119408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2497-37T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2230-37T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2497-37T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2206-37T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1828-37T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1669-37T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1888-37T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2398-37T>C
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27852
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-29442184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29442184
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29442184
    reference: chr 1
allele count: 3
allele frequency: 2.497710432103905e-5
allele num: 120110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1888-27C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2206-27C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1669-27C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2497-27C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2230-27C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1828-27C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2497-27C>T
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2398-27C>T
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14734
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-29442186-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29442186
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29442186
    reference: chr 1
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1828-25T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2206-25T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2497-25T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1669-25T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1888-25T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2497-25T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2230-25T>C
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2398-25T>C
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-29442192-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29442192
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29442192
    reference: chr 1
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000317597
  ensembl transcript: ENST00000349460
  gene symbol: EPB41
  hgvsc: ENST00000349460.4:c.1828-19T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl transcript: ENST00000460378
  gene symbol: EPB41
  hgvsc: ENST00000460378.1:n.1888-19T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000345259
  ensembl transcript: ENST00000343067
  gene symbol: EPB41
  hgvsc: ENST00000343067.4:c.2497-19T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362904
  ensembl transcript: ENST00000373798
  gene symbol: EPB41
  hgvsc: ENST00000373798.1:c.2497-19T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000362906
  ensembl transcript: ENST00000373800
  gene symbol: EPB41
  hgvsc: ENST00000373800.3:c.1669-19T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000290100
  ensembl transcript: ENST00000347529
  gene symbol: EPB41
  hgvsc: ENST00000347529.3:c.2230-19T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000348397
  ensembl transcript: ENST00000356093
  gene symbol: EPB41
  hgvsc: ENST00000356093.2:c.2398-19T>G
  variant of: http://identifiers.org/hgnc/3377
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159023
  ensembl protein: ENSP00000381839
  ensembl transcript: ENST00000398863
  gene symbol: EPB41
  hgvsc: ENST00000398863.2:c.2206-19T>G
  variant of: http://identifiers.org/hgnc/3377
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-29442195-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29442195
    reference: chr 1
allele count: 1
allele frequency: 8.274309922552459e-6
allele num: 120856
alternate allele: C
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10736
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34869
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.066e1

DP
type: SiteQuality
SIO_000300: 2.164622e6

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.628e0

FS
type: SiteQuality
SIO_000300: 1.289e0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10739
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.716e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 2.169215e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.038e0

QD
type: SiteQuality
SIO_000300: 1.282e1

GenotypeQuality
all individuals: 210
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.282e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.038e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 1.716e0

DP
type: SiteQuality
SIO_000300: 2.169215e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 677
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 19

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.25531914893617e-4
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.649917504124794e-4
allele num: 66670
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

DP
type: SiteQuality
SIO_000300: 2.172142e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

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

GenotypeQuality
all individuals: 2156
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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
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.313e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.993e0

MQRankSum
type: SiteQuality
SIO_000300: -7.44e-1

DP
type: SiteQuality
SIO_000300: 2.172003e6

FS
type: SiteQuality
SIO_000300: 9.23e0

QD
type: SiteQuality
SIO_000300: 8.470000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
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bin: 1.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 27
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variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.771e0

FS
type: SiteQuality
SIO_000300: 1.664e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.444e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

QD
type: SiteQuality
SIO_000300: 1.336e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

DP
type: SiteQuality
SIO_000300: 2.172212e6

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 1.526e1

MQ
type: SiteQuality
SIO_000300: 5.894e1

DP
type: SiteQuality
SIO_000300: 2.172728e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

FS
type: SiteQuality
SIO_000300: 7.304e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.592e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.303e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 17

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 15
allele frequency: 1.733302519066328e-3
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 2.175312e6

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.03e0

QD
type: SiteQuality
SIO_000300: 1.164e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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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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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

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

African
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allele num: 10384
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Other
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66704
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South Asian
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16490
num of homozygotes: 0

Other
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allele num: 906
num of homozygotes: 0

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

African
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allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
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
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ClippingRankSum
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SIO_000300: 2.86e0

FS
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 11532
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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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 frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele frequency: 6.066488716330988e-5
allele num: 16484
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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FS
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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European (Finnish)
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East Asian
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Other
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allele num: 906
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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East Asian
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Other
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European (Finnish)
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Latino
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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African
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Other
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South Asian
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MQRankSum
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QD
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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Latino
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South Asian
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African
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allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.523522316043426e-5
allele num: 66320
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.361e1

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

DP
type: SiteQuality
SIO_000300: 2.148929e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 1.412e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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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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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10732
bin: 9.75e1
variant carriers: 5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.0622594040799e-5
allele num: 65982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.459e0

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

DP
type: SiteQuality
SIO_000300: 2.120657e6

QD
type: SiteQuality
SIO_000300: 1.417e1

FS
type: SiteQuality
SIO_000300: 7.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1957
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variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520357588104722e-5
allele num: 65774
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

DP
type: SiteQuality
SIO_000300: 2.096677e6

QD
type: SiteQuality
SIO_000300: 1.511e1

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 2997
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variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 9
allele frequency: 7.970244420828905e-4
allele num: 11292
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.252252252252252e-3
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

South Asian
type: Population
allele count: 36
allele frequency: 2.218661407617404e-3
allele num: 16226
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.932363350373574e-4
allele num: 10172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 146
allele frequency: 2.219722078632894e-3
allele num: 65774
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 6.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

QD
type: SiteQuality
SIO_000300: 1.511e1

DP
type: SiteQuality
SIO_000300: 2.096677e6

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
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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: 27
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 10721
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GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 459
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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: 1396
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.188212927756654e-4
allele num: 8416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65742
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.744e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.087432e6

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e0

VQSLOD
type: SiteQuality
SIO_000300: -3.147e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.207e0

GenotypeQuality
all individuals: 2383
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 1753
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variant carriers: 0

GenotypeQuality
all individuals: 2299
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 3213
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variant carriers: 0

GenotypeQuality
all individuals: 26269
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5682
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.565654106044926e-5
allele num: 65708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.844457570387872e-5
allele num: 10158
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

FS
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.452e1

DP
type: SiteQuality
SIO_000300: 2.081553e6

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1882
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2950
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GenotypeQuality
all individuals: 1965
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GenotypeQuality
all individuals: 21931
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10719
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3312
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.903133903133904e-5
allele num: 11232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.45e-1

QD
type: SiteQuality
SIO_000300: 4.48e0

FS
type: SiteQuality
SIO_000300: 4.193e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

VQSLOD
type: SiteQuality
SIO_000300: -1.854e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.042864e6

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

GenotypeQuality
all individuals: 876
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2320
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.582671391910057e-5
allele num: 65464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.919015340706386e-5
allele num: 11212
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.859657822960575e-4
allele num: 16132
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.391e0

DP
type: SiteQuality
SIO_000300: 2.031102e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
all individuals: 10717
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3757
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.5e0
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GenotypeQuality
all individuals: 650
bin: 8.75e1
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GenotypeQuality
all individuals: 2090
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
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GenotypeQuality
all individuals: 384
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GenotypeQuality
all individuals: 5000
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3708
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.068425897514575e-4
allele num: 6518
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

FS
type: SiteQuality
SIO_000300: 1.847e0

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.935e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 2.018928e6

QD
type: SiteQuality
SIO_000300: 1.622e1

GenotypeQuality
all individuals: 2133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10716
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1519
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variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 649
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GenotypeQuality
all individuals: 4011
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variant carriers: 0

GenotypeQuality
all individuals: 1896
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variant carriers: 0

GenotypeQuality
all individuals: 611
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variant carriers: 0

GenotypeQuality
all individuals: 17579
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531909678605349e-5
allele num: 65278
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

FS
type: SiteQuality
SIO_000300: 3.038e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

DP
type: SiteQuality
SIO_000300: 2.008185e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.666e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.021e0

GenotypeQuality
all individuals: 1979
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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: 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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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: 2290
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.942334460131238e-5
allele num: 10058
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 4.21e0

VQSLOD
type: SiteQuality
SIO_000300: -1.161e0

DP
type: SiteQuality
SIO_000300: 2.004219e6

QD
type: SiteQuality
SIO_000300: 7.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.328e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

MQ
type: SiteQuality
SIO_000300: 5.823e1

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

East Asian
type: Population
allele count: 18
allele frequency: 2.129673450070989e-3
allele num: 8452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516300227445034e-5
allele num: 65950
num of homozygotes: 0

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

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

African
type: Population
allele count: 17
allele frequency: 1.688853566461355e-3
allele num: 10066
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

MQ
type: SiteQuality
SIO_000300: 5.85e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-1

QD
type: SiteQuality
SIO_000300: 5.41e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 5.412e0

DP
type: SiteQuality
SIO_000300: 2.447896e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 189
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.032600454890068e-5
allele num: 65950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.85e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

FS
type: SiteQuality
SIO_000300: 5.412e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-1

DP
type: SiteQuality
SIO_000300: 2.447896e6

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.986886548778065e-4
allele num: 10066
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 5.41e0

DP
type: SiteQuality
SIO_000300: 2.447896e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-1

FS
type: SiteQuality
SIO_000300: 5.412e0

MQ
type: SiteQuality
SIO_000300: 5.85e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 3451
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27399
bin: 9.75e1
variant carriers: 4

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

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

African
type: Population
allele count: 3
allele frequency: 2.980329823167097e-4
allele num: 10066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.426080363912055e-4
allele num: 65950
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-1

FS
type: SiteQuality
SIO_000300: 5.412e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.85e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

DP
type: SiteQuality
SIO_000300: 2.447896e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 5.41e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 1

African
type: Population
allele count: 2
allele frequency: 2.014910336490026e-4
allele num: 9926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.621951219512195e-5
allele num: 65600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.935e0

FS
type: SiteQuality
SIO_000300: 2.6361e1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -5.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

DP
type: SiteQuality
SIO_000300: 2.448549e6

MQ
type: SiteQuality
SIO_000300: 5.662e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.93e-1

GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.033888534935227e-5
allele num: 65922
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16458
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.9147332936744e-5
allele num: 10086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

VQSLOD
type: SiteQuality
SIO_000300: -3.654e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 3.53e0

MQ
type: SiteQuality
SIO_000300: 5.662e1

DP
type: SiteQuality
SIO_000300: 2.454929e6

FS
type: SiteQuality
SIO_000300: 8.930999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516944267467613e-5
allele num: 65922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16458
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African
type: Population
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allele frequency: 0.0e0
allele num: 10086
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East Asian
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allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.662e1

DP
type: SiteQuality
SIO_000300: 2.454929e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

FS
type: SiteQuality
SIO_000300: 8.930999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.654e-1

QD
type: SiteQuality
SIO_000300: 3.53e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.9147332936744e-5
allele num: 10086
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.061860987227329e-4
allele num: 65922
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.662e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

DP
type: SiteQuality
SIO_000300: 2.454929e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 8.930999999999999e0

QD
type: SiteQuality
SIO_000300: 3.53e0

VQSLOD
type: SiteQuality
SIO_000300: -3.654e-1

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3912
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27417
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3491
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514738404677512e-5
allele num: 66018
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.459303e6

VQSLOD
type: SiteQuality
SIO_000300: -9.078000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.163e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.281e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27449
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 532
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3922
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8471
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.816090562382711e-4
allele num: 66076
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.965599051008304e-4
allele num: 10116
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.3425e1

MQRankSum
type: SiteQuality
SIO_000300: -1.741e0

MQ
type: SiteQuality
SIO_000300: 5.764e1

DP
type: SiteQuality
SIO_000300: 2.470311e6

QD
type: SiteQuality
SIO_000300: 7.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -2.344e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.595e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

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

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27450
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 586
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9836
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3946
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.663591542905538e-4
allele num: 66122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.930045195519749e-4
allele num: 10178
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.829e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.971e0

MQ
type: SiteQuality
SIO_000300: 5.52e1

VQSLOD
type: SiteQuality
SIO_000300: -3.188e0

QD
type: SiteQuality
SIO_000300: 6.95e0

FS
type: SiteQuality
SIO_000300: 1.0959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 2.48458e6

GenotypeQuality
all individuals: 27507
bin: 9.75e1
variant carriers: 43

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

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

GenotypeQuality
all individuals: 150
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2438
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11255
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3997
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3542
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 6.01630418433956e-4
allele num: 66486
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.936108422071636e-4
allele num: 10330
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: 8614
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.503672e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.232e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.38e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

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

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

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27494
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4007
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.012686769082765e-5
allele num: 66526
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: 11546
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.477051460361613e-4
allele num: 8628
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 2.506263e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.367e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

GenotypeQuality
all individuals: 102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4024
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variant carriers: 0

GenotypeQuality
all individuals: 2477
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 3551
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4975
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27499
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 5.995e1

MQRankSum
type: SiteQuality
SIO_000300: -7.38e-1

FS
type: SiteQuality
SIO_000300: 8.53e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

DP
type: SiteQuality
SIO_000300: 2.510119e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4988
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2489
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GenotypeQuality
all individuals: 27500
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3553
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11686
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variant carriers: 0

GenotypeQuality
all individuals: 4037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 66670
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.511777e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.716e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

FS
type: SiteQuality
SIO_000300: 2.293e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -3.319e0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4034
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variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27500
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 11695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4985
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.924e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.902e-1

DP
type: SiteQuality
SIO_000300: 2.512508e6

QD
type: SiteQuality
SIO_000300: 1.063e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

FS
type: SiteQuality
SIO_000300: 4.818e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

MQRankSum
type: SiteQuality
SIO_000300: -1.576e0

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

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

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 2284
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11762
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4036
bin: 8.25e1
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GenotypeQuality
all individuals: 27505
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5007
bin: 6.75e1
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: 11578
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 7
allele frequency: 8.088745088976196e-4
allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.247e1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 2.514747e6

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

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

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

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11757
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27524
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 2282
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 10
allele frequency: 8.637070305752289e-4
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

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

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: 27
allele frequency: 4.045671131888879e-4
allele num: 66738
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

DP
type: SiteQuality
SIO_000300: 2.517623e6

QD
type: SiteQuality
SIO_000300: 1.172e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 5.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27508
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 3557
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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: 66736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.559e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

DP
type: SiteQuality
SIO_000300: 2.515208e6

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

GenotypeQuality
all individuals: 4033
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5010
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 6.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.169e1

DP
type: SiteQuality
SIO_000300: 2.51535e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.936e0

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

GenotypeQuality
all individuals: 11748
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3557
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.491983577571999e-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

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: 1
allele frequency: 6.056201550387597e-5
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

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.144e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

FS
type: SiteQuality
SIO_000300: 1.778e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

DP
type: SiteQuality
SIO_000300: 2.515791e6

GenotypeQuality
all individuals: 2507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3557
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

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

GenotypeQuality
all individuals: 27509
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5012
bin: 6.75e1
variant carriers: 0

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

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

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

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

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: 66738
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.887e0

QD
type: SiteQuality
SIO_000300: 9.49e0

VQSLOD
type: SiteQuality
SIO_000300: -1.847e0

FS
type: SiteQuality
SIO_000300: 5.817e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

DP
type: SiteQuality
SIO_000300: 2.515429e6

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

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

DP
type: SiteQuality
SIO_000300: 2.515558e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.096e1

FS
type: SiteQuality
SIO_000300: 1.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.966e0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5003
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3557
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.515166e6

FS
type: SiteQuality
SIO_000300: 7.657e0

QD
type: SiteQuality
SIO_000300: 1.17e1

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5003
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11653
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4035
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27510
bin: 9.75e1
variant carriers: 2

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: 10404
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.271e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.45e-2

FS
type: SiteQuality
SIO_000300: 8.736000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.58e0

DP
type: SiteQuality
SIO_000300: 2.51521e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2500
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GenotypeQuality
all individuals: 4032
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27509
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

European (Finnish)
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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.396e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.452e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.28e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.514944e6

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3555
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4026
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4986
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11447
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27512
bin: 9.75e1
variant carriers: 6

Latino
type: Population
allele count: 5
allele frequency: 4.319281271596407e-4
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
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: 10398
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

QD
type: SiteQuality
SIO_000300: 1.427e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.37e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

DP
type: SiteQuality
SIO_000300: 2.515271e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 3556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11224
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27504
bin: 9.75e1
variant carriers: 2

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: 2.997601918465228e-5
allele num: 66720
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: 10396
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

DP
type: SiteQuality
SIO_000300: 2.514802e6

QD
type: SiteQuality
SIO_000300: 1.703e1

FS
type: SiteQuality
SIO_000300: 5.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3553
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4032
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
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

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: 66716
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

QD
type: SiteQuality
SIO_000300: 1.61e1

FS
type: SiteQuality
SIO_000300: 1.242e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.149e0

DP
type: SiteQuality
SIO_000300: 2.514574e6

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4012
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3549
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4027
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10842
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 12
allele frequency: 7.26832222895215e-4
allele num: 16510
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 66706
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.703e1

FS
type: SiteQuality
SIO_000300: 9.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

DP
type: SiteQuality
SIO_000300: 2.514607e6

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.575e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

GenotypeQuality
all individuals: 146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4970
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3552
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 27510
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.18e-1

DP
type: SiteQuality
SIO_000300: 2.513989e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

FS
type: SiteQuality
SIO_000300: 3.927e0

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

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8331
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
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variant carriers: 0

GenotypeQuality
all individuals: 983
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variant carriers: 0

GenotypeQuality
all individuals: 154
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 3982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27510
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3548
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.924557351809084e-4
allele num: 10392
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 2.519199e6

FS
type: SiteQuality
SIO_000300: 1.716e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
SIO_000300: 1.757e1

GenotypeQuality
all individuals: 2272
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8455
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
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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: 19
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variant carriers: 0

GenotypeQuality
all individuals: 432
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variant carriers: 0

GenotypeQuality
all individuals: 4028
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variant carriers: 0

GenotypeQuality
all individuals: 2414
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.346e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

DP
type: SiteQuality
SIO_000300: 2.519568e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

GenotypeQuality
all individuals: 161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 377
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GenotypeQuality
all individuals: 4484
bin: 6.75e1
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GenotypeQuality
all individuals: 601
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variant carriers: 0

GenotypeQuality
all individuals: 3990
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2270
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 3549
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
all individuals: 7683
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 16492
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-1

FS
type: SiteQuality
SIO_000300: 2.707e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.322e0

VQSLOD
type: SiteQuality
SIO_000300: -8.416e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.833e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.523961e6

GenotypeQuality
all individuals: 1026
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6245
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3015
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 982
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variant carriers: 0

GenotypeQuality
all individuals: 14789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.964636542239686e-4
allele num: 10180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531346666258308e-5
allele num: 65302
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.54e-1

DP
type: SiteQuality
SIO_000300: 1.711014e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.092e0

QD
type: SiteQuality
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65396
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

East Asian
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allele count: 9
allele frequency: 1.082251082251082e-3
allele num: 8316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 2.53e0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.197604790419162e-4
allele num: 8350
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65614
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

DP
type: SiteQuality
SIO_000300: 1.742397e6

QD
type: SiteQuality
SIO_000300: 1.34e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 1
allele frequency: 8.885729518393461e-5
allele num: 11254
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65610
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10206
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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.634e1

VQSLOD
type: SiteQuality
SIO_000300: -3.154e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.745616e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.013e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1414
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.040900106431504e-5
allele num: 65770
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10222
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.785379e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.133e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

ReadPosRankSum
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SIO_000300: -1.464e0

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

African
type: Population
allele count: 1
allele frequency: 9.771350400625366e-5
allele num: 10234
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65786
num of homozygotes: 0

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

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

Other
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.94325689856199e-4
allele num: 10292
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 8494
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Finnish)
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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: 16410
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509023963300537e-5
allele num: 66268
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
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allele num: 8518
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VQSLOD
type: SiteQuality
SIO_000300: 4.79e-1

FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6524
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

BaseQRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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