2-120833058-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833058
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833058
    reference: chr 2
allele count: 4
allele frequency: 3.349017900500678e-5
allele num: 119438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.414A>G
  hgvsp: ENST00000443902.2:c.414A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.414A>G
  hgvsp: ENST00000263713.5:c.414A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.414A>G
  hgvsp: ENST00000443124.1:c.414A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.414A>G
  hgvsp: ENST00000331393.4:c.414A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.414A>G
  hgvsp: ENST00000452780.1:c.414A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11930
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu138Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-120833065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833065
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833065
    reference: chr 2
allele count: 1
allele frequency: 8.353939717970996e-6
allele num: 119704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.421C>T
  hgvsp: ENSP00000390439.1:p.Leu141Phe
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.421C>T
  hgvsp: ENSP00000329687.4:p.Leu141Phe
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.421C>T
  hgvsp: ENSP00000263713.5:p.Leu141Phe
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.421C>T
  hgvsp: ENSP00000393856.2:p.Leu141Phe
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.421C>T
  hgvsp: ENSP00000393722.1:p.Leu141Phe
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12271
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu141Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-120833069-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833069
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833069
    reference: chr 2
allele count: 2
allele frequency: 1.669281874937402e-5
allele num: 119812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.425A>G
  hgvsp: ENSP00000393722.1:p.Gln142Arg
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.425A>G
  hgvsp: ENSP00000393856.2:p.Gln142Arg
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.425A>G
  hgvsp: ENSP00000329687.4:p.Gln142Arg
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.425A>G
  hgvsp: ENSP00000390439.1:p.Gln142Arg
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.425A>G
  hgvsp: ENSP00000263713.5:p.Gln142Arg
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24210
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln142Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/2-120833077-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833077
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833077
    reference: chr 2
allele count: 1
allele frequency: 8.340561820244212e-6
allele num: 119896
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.433C>A
  hgvsp: ENSP00000263713.5:p.Gln145Lys
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.433C>A
  hgvsp: ENSP00000329687.4:p.Gln145Lys
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.433C>A
  hgvsp: ENSP00000393856.2:p.Gln145Lys
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.433C>A
  hgvsp: ENSP00000393722.1:p.Gln145Lys
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.433C>A
  hgvsp: ENSP00000390439.1:p.Gln145Lys
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln145Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-120833086-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833086
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833086
    reference: chr 2
allele count: 9
allele frequency: 7.504502701620973e-5
allele num: 119928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.442C>A
  hgvsp: ENSP00000393722.1:p.Leu148Ile
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.442C>A
  hgvsp: ENSP00000393856.2:p.Leu148Ile
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.442C>A
  hgvsp: ENSP00000390439.1:p.Leu148Ile
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.442C>A
  hgvsp: ENSP00000263713.5:p.Leu148Ile
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.442C>A
  hgvsp: ENSP00000329687.4:p.Leu148Ile
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu148Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

2-120833088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833088
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833088
    reference: chr 2
allele count: 1
allele frequency: 8.339309838717748e-6
allele num: 119914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.444C>T
  hgvsp: ENST00000452780.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.444C>T
  hgvsp: ENST00000443124.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.444C>T
  hgvsp: ENST00000443902.2:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.444C>T
  hgvsp: ENST00000263713.5:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.444C>T
  hgvsp: ENST00000331393.4:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11929
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu148Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

2-120833089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833089
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833089
    reference: chr 2
allele count: 1
allele frequency: 8.338336335134414e-6
allele num: 119928
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.445A>G
  hgvsp: ENSP00000393856.2:p.Ser149Gly
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.445A>G
  hgvsp: ENSP00000263713.5:p.Ser149Gly
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.445A>G
  hgvsp: ENSP00000329687.4:p.Ser149Gly
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.445A>G
  hgvsp: ENSP00000390439.1:p.Ser149Gly
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.445A>G
  hgvsp: ENSP00000393722.1:p.Ser149Gly
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12668
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser149Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/2-120833094-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833094
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833094
    reference: chr 2
allele count: 2
allele frequency: 1.667111229661243e-5
allele num: 119968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.450A>C
  hgvsp: ENST00000331393.4:c.450A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.450A>C
  hgvsp: ENST00000443902.2:c.450A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.450A>C
  hgvsp: ENST00000452780.1:c.450A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.450A>C
  hgvsp: ENST00000443124.1:c.450A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.450A>C
  hgvsp: ENST00000263713.5:c.450A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 8.25e1
  variant carriers: 0
hgvs: c.450A>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-120833103-ATTAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833103
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833099
    reference: chr 2
allele count: 1
allele frequency: 8.335556148306214e-6
allele num: 119968
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.452+11_452+14delGTTA
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.452+11_452+14delGTTA
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.452+11_452+14delGTTA
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.452+11_452+14delGTTA
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.452+11_452+14delGTTA
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28799
  bin: 6.25e1
  variant carriers: 0
hgvs: c.452+11_452+14delGTTA
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: ATTAG
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-120833110-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833110
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833110
    reference: chr 2
allele count: 317
allele frequency: 2.642723756169134e-3
allele num: 119952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.452+14A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.452+14A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.452+14A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.452+14A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.452+14A>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 12933
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22348
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12122
  bin: 9.75e1
  variant carriers: 313
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27764
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 3
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-120833116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833116
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833116
    reference: chr 2
allele count: 4
allele frequency: 3.33555703802535e-5
allele num: 119920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.452+20G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.452+20G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.452+20G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.452+20G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.452+20G>A
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13013
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11919
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-120833119-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833119
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833119
    reference: chr 2
allele count: 1
allele frequency: 8.338614455822021e-6
allele num: 119924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.452+23T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.452+23T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.452+23T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.452+23T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.452+23T>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-120833126-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833126
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833126
    reference: chr 2
allele count: 1
allele frequency: 8.343484572897024e-6
allele num: 119854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.452+30A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.452+30A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.452+30A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.452+30A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.452+30A>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11917
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-120833133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833133
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833133
    reference: chr 2
allele count: 1
allele frequency: 8.359107247345984e-6
allele num: 119630
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.452+37C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.452+37C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.452+37C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.452+37C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.452+37C>T
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11914
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

2-120833134-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833134
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833134
    reference: chr 2
allele count: 2
allele frequency: 1.673220112105748e-5
allele num: 119530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.452+38G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.452+38G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.452+38G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.452+38G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.452+38G>A
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12226
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-120833134-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833134
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833134
    reference: chr 2
allele count: 1
allele frequency: 8.366100560528738e-6
allele num: 119530
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.452+38G>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.452+38G>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.452+38G>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.452+38G>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.452+38G>C
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12226
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-120833134-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833134
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833134
    reference: chr 2
allele count: 1
allele frequency: 8.366100560528738e-6
allele num: 119530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.452+38G>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.452+38G>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.452+38G>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.452+38G>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.452+38G>T
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-120833237-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833237
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833237
    reference: chr 2
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.453-40T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.453-40T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.453-40T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.453-40T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.453-40T>C
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-120833240-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833240
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833240
    reference: chr 2
allele count: 2
allele frequency: 1.650028875505322e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.453-37A>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.453-37A>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.453-37A>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.453-37A>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.453-37A>T
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18770
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

2-120833243-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833243
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833243
    reference: chr 2
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.453-34C>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.453-34C>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.453-34C>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.453-34C>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.453-34C>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18765
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-120833245-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833245
    reference: chr 2
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.453-32A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.453-32A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.453-32A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.453-32A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.453-32A>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12905
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-120833248-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833248
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833248
    reference: chr 2
allele count: 4
allele frequency: 3.300057751010643e-5
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.453-29T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.453-29T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.453-29T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.453-29T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.453-29T>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18766
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-120833251-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833251
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833251
    reference: chr 2
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.453-26C>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.453-26C>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.453-26C>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.453-26C>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.453-26C>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18760
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7239
  bin: 6.75e1
  variant carriers: 0
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: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-120833257-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833257
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833257
    reference: chr 2
allele count: 3
allele frequency: 2.474634991338777e-5
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.453-20A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.453-20A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.453-20A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.453-20A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.453-20A>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4364
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

2-120833262-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833262
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833262
    reference: chr 2
allele count: 89
allele frequency: 7.340569430239847e-4
allele num: 121244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.453-15G>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.453-15G>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.453-15G>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.453-15G>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.453-15G>C
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 13158
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18787
  bin: 9.75e1
  variant carriers: 89
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

2-120833272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833272
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833272
    reference: chr 2
allele count: 8
allele frequency: 6.598482349059716e-5
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.453-5C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.453-5C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.453-5C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.453-5C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.453-5C>T
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18737
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: c.453-5C>T
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

2-120833273-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833273
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833273
    reference: chr 2
allele count: 10
allele frequency: 8.247558722618105e-5
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.453-4T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.453-4T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.453-4T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.453-4T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.453-4T>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18734
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: c.453-4T>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

2-120833277-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833277
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833277
    reference: chr 2
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.453A>G
  hgvsp: ENST00000452780.1:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.453A>G
  hgvsp: ENST00000443124.1:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.453A>G
  hgvsp: ENST00000331393.4:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.453A>G
  hgvsp: ENST00000263713.5:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.453A>G
  hgvsp: ENST00000443902.2:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: c.453A>G
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-120833282-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833282
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833282
    reference: chr 2
allele count: 8
allele frequency: 6.597829314155642e-5
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.458A>G
  hgvsp: ENSP00000263713.5:p.Asp153Gly
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.458A>G
  hgvsp: ENSP00000390439.1:p.Asp153Gly
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.458A>G
  hgvsp: ENSP00000393722.1:p.Asp153Gly
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.458A>G
  hgvsp: ENSP00000329687.4:p.Asp153Gly
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.458A>G
  hgvsp: ENSP00000393856.2:p.Asp153Gly
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18733
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp153Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-120833283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833283
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833283
    reference: chr 2
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.459C>T
  hgvsp: ENST00000452780.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.459C>T
  hgvsp: ENST00000331393.4:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.459C>T
  hgvsp: ENST00000263713.5:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.459C>T
  hgvsp: ENST00000443902.2:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.459C>T
  hgvsp: ENST00000443124.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18725
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp153Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-120833307-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833307
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833307
    reference: chr 2
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.483A>G
  hgvsp: ENST00000452780.1:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.483A>G
  hgvsp: ENST00000443902.2:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.483A>G
  hgvsp: ENST00000263713.5:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.483A>G
  hgvsp: ENST00000443124.1:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.483A>G
  hgvsp: ENST00000331393.4:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18722
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln161Gln
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum

2-120833310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833310
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833310
    reference: chr 2
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.486G>A
  hgvsp: ENST00000443124.1:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.486G>A
  hgvsp: ENST00000443902.2:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.486G>A
  hgvsp: ENST00000452780.1:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.486G>A
  hgvsp: ENST00000331393.4:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.486G>A
  hgvsp: ENST00000263713.5:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu162Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

2-120833317-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833317
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833317
    reference: chr 2
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.493T>C
  hgvsp: ENSP00000390439.1:p.Tyr165His
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.493T>C
  hgvsp: ENSP00000329687.4:p.Tyr165His
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.493T>C
  hgvsp: ENSP00000393856.2:p.Tyr165His
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.493T>C
  hgvsp: ENSP00000393722.1:p.Tyr165His
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.493T>C
  hgvsp: ENSP00000263713.5:p.Tyr165His
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr165His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

2-120833322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833322
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833322
    reference: chr 2
allele count: 3
allele frequency: 2.477250582153887e-5
allele num: 121102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.498T>C
  hgvsp: ENST00000452780.1:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.498T>C
  hgvsp: ENST00000263713.5:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.498T>C
  hgvsp: ENST00000443902.2:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.498T>C
  hgvsp: ENST00000443124.1:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.498T>C
  hgvsp: ENST00000331393.4:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn166Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

2-120833325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833325
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833325
    reference: chr 2
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.501G>A
  hgvsp: ENST00000452780.1:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.501G>A
  hgvsp: ENST00000263713.5:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.501G>A
  hgvsp: ENST00000443124.1:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.501G>A
  hgvsp: ENST00000443902.2:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.501G>A
  hgvsp: ENST00000331393.4:c.501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu167Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-120833326-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833326
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833326
    reference: chr 2
allele count: 2
allele frequency: 1.652319029758266e-5
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.502C>G
  hgvsp: ENSP00000390439.1:p.Gln168Glu
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.502C>G
  hgvsp: ENSP00000263713.5:p.Gln168Glu
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.502C>G
  hgvsp: ENSP00000393722.1:p.Gln168Glu
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.502C>G
  hgvsp: ENSP00000393856.2:p.Gln168Glu
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.502C>G
  hgvsp: ENSP00000329687.4:p.Gln168Glu
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13067
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln168Glu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

2-120833334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833334
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833334
    reference: chr 2
allele count: 2
allele frequency: 1.652837922713299e-5
allele num: 121004
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.505+5G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.505+5G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.505+5G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.505+5G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.505+5G>A
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5013
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
hgvs: c.505+5G>A
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-120833337-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833337
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833337
    reference: chr 2
allele count: 4
allele frequency: 3.305839765946544e-5
allele num: 120998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.505+8A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.505+8A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.505+8A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.505+8A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.505+8A>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18719
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5014
  bin: 7.75e1
  variant carriers: 0
hgvs: c.505+8A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-120833344-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833344
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833344
    reference: chr 2
allele count: 2
allele frequency: 1.653521173338625e-5
allele num: 120954
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.505+15T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.505+15T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.505+15T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.505+15T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.505+15T>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS

2-120833345-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833345
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833345
    reference: chr 2
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.505+16G>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.505+16G>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.505+16G>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.505+16G>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.505+16G>T
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7171
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-120833359-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833359
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833359
    reference: chr 2
allele count: 6
allele frequency: 4.967134129178602e-5
allele num: 120794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.505+30C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.505+30C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.505+30C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.505+30C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.505+30C>T
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18711
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/2-120833361-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833361
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833361
    reference: chr 2
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.505+32C>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.505+32C>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.505+32C>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.505+32C>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.505+32C>A
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18706
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

2-120833363-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833363
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833363
    reference: chr 2
allele count: 2
allele frequency: 1.656342134031205e-5
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.505+34A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.505+34A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.505+34A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.505+34A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.505+34A>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18706
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-120833364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833364
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833364
    reference: chr 2
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.505+35G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.505+35G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.505+35G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.505+35G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.505+35G>A
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12400
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-120833364-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833364
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833364
    reference: chr 2
allele count: 2
allele frequency: 1.656973372437905e-5
allele num: 120702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.505+35G>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.505+35G>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.505+35G>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.505+35G>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.505+35G>C
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6782
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

2-120833365-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833365
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833365
    reference: chr 2
allele count: 3
allele frequency: 2.48541887592789e-5
allele num: 120704
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.505+36T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.505+36T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.505+36T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.505+36T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.505+36T>C
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18701
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-120833369-ATCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120833369
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120833366
    reference: chr 2
allele count: 2
allele frequency: 1.657824933687002e-5
allele num: 120640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.505+42_505+44delCTT
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.505+42_505+44delCTT
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.505+42_505+44delCTT
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.505+42_505+44delCTT
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.505+42_505+44delCTT
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: ATCT
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-120834510-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834510
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834510
    reference: chr 2
allele count: 1
allele frequency: 8.481332586976066e-6
allele num: 117906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.506-37A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.506-37A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.506-37A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.506-37A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.506-37A>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45191
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-120834525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834525
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834525
    reference: chr 2
allele count: 7
allele frequency: 5.895133987973927e-5
allele num: 118742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.506-22C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.506-22C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.506-22C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.506-22C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.506-22C>T
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6439
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45208
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-120834530-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834530
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834530
    reference: chr 2
allele count: 1
allele frequency: 8.384619254439656e-6
allele num: 119266
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.506-17G>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.506-17G>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.506-17G>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.506-17G>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.506-17G>T
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

2-120834538-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834538
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834538
    reference: chr 2
allele count: 18
allele frequency: 1.499775033744938e-4
allele num: 120018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.506-9T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.506-9T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.506-9T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.506-9T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.506-9T>C
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-120834543-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834543
    reference: chr 2
allele count: 1
allele frequency: 8.308960382876895e-6
allele num: 120352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.506-4A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.506-4A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.506-4A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.506-4A>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.506-4A>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: c.506-4A>G
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff

2-120834544-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834544
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834544
    reference: chr 2
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.506-3T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.506-3T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.506-3T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.506-3T>C
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.506-3T>C
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45213
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
hgvs: c.506-3T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

2-120834552-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834552
    reference: chr 2
allele count: 4
allele frequency: 3.311971119611837e-5
allele num: 120774
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.511C>G
  hgvsp: ENSP00000263713.5:p.Leu171Val
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.511C>G
  hgvsp: ENSP00000393722.1:p.Leu171Val
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.511C>G
  hgvsp: ENSP00000393856.2:p.Leu171Val
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.511C>G
  hgvsp: ENSP00000390439.1:p.Leu171Val
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.511C>G
  hgvsp: ENSP00000329687.4:p.Leu171Val
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45217
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu171Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

2-120834562-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834562
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834562
    reference: chr 2
allele count: 4
allele frequency: 3.304528856798242e-5
allele num: 121046
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.521A>G
  hgvsp: ENSP00000263713.5:p.Tyr174Cys
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.521A>G
  hgvsp: ENSP00000390439.1:p.Tyr174Cys
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.521A>G
  hgvsp: ENSP00000393856.2:p.Tyr174Cys
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.521A>G
  hgvsp: ENSP00000393722.1:p.Tyr174Cys
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.521A>G
  hgvsp: ENSP00000329687.4:p.Tyr174Cys
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr174Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-120834566-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834566
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834566
    reference: chr 2
allele count: 2
allele frequency: 1.651773178507128e-5
allele num: 121082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.525T>C
  hgvsp: ENST00000443902.2:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.525T>C
  hgvsp: ENST00000331393.4:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.525T>C
  hgvsp: ENST00000452780.1:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.525T>C
  hgvsp: ENST00000263713.5:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.525T>C
  hgvsp: ENST00000443124.1:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45218
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp175Asp
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-120834575-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834575
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834575
    reference: chr 2
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.534G>A
  hgvsp: ENST00000443902.2:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.534G>A
  hgvsp: ENST00000331393.4:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.534G>A
  hgvsp: ENST00000443124.1:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.534G>A
  hgvsp: ENST00000452780.1:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.534G>A
  hgvsp: ENST00000263713.5:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu178Glu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

2-120834577-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834577
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834577
    reference: chr 2
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.536A>G
  hgvsp: ENSP00000329687.4:p.His179Arg
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.536A>G
  hgvsp: ENSP00000390439.1:p.His179Arg
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.536A>G
  hgvsp: ENSP00000393722.1:p.His179Arg
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.536A>G
  hgvsp: ENSP00000263713.5:p.His179Arg
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.536A>G
  hgvsp: ENSP00000393856.2:p.His179Arg
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His179Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-120834588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834588
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834588
    reference: chr 2
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.547C>T
  hgvsp: ENSP00000390439.1:p.Leu183Phe
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.547C>T
  hgvsp: ENSP00000329687.4:p.Leu183Phe
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.547C>T
  hgvsp: ENSP00000393856.2:p.Leu183Phe
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.547C>T
  hgvsp: ENSP00000263713.5:p.Leu183Phe
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.547C>T
  hgvsp: ENSP00000393722.1:p.Leu183Phe
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45217
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu183Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

2-120834592-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834592
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834592
    reference: chr 2
allele count: 3
allele frequency: 2.474226804123711e-5
allele num: 121250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.551T>C
  hgvsp: ENSP00000393856.2:p.Val184Ala
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.551T>C
  hgvsp: ENSP00000329687.4:p.Val184Ala
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.551T>C
  hgvsp: ENSP00000390439.1:p.Val184Ala
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.551T>C
  hgvsp: ENSP00000263713.5:p.Val184Ala
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.551T>C
  hgvsp: ENSP00000393722.1:p.Val184Ala
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val184Ala
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-120834608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834608
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834608
    reference: chr 2
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.567C>T
  hgvsp: ENST00000443124.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.567C>T
  hgvsp: ENST00000443902.2:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.567C>T
  hgvsp: ENST00000331393.4:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.567C>T
  hgvsp: ENST00000263713.5:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.567C>T
  hgvsp: ENST00000452780.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45217
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe189Phe
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

2-120834609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834609
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834609
    reference: chr 2
allele count: 2
allele frequency: 1.64923970049807e-5
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.568G>A
  hgvsp: ENSP00000393856.2:p.Val190Met
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.568G>A
  hgvsp: ENSP00000263713.5:p.Val190Met
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.568G>A
  hgvsp: ENSP00000329687.4:p.Val190Met
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.568G>A
  hgvsp: ENSP00000393722.1:p.Val190Met
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.568G>A
  hgvsp: ENSP00000390439.1:p.Val190Met
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val190Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-120834616-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834616
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834616
    reference: chr 2
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.575T>A
  hgvsp: ENSP00000390439.1:p.Ile192Asn
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.575T>A
  hgvsp: ENSP00000263713.5:p.Ile192Asn
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.575T>A
  hgvsp: ENSP00000393722.1:p.Ile192Asn
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.575T>A
  hgvsp: ENSP00000393856.2:p.Ile192Asn
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.575T>A
  hgvsp: ENSP00000329687.4:p.Ile192Asn
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7701
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile192Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

2-120834620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834620
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834620
    reference: chr 2
allele count: 4
allele frequency: 3.298261816022956e-5
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.579G>A
  hgvsp: ENST00000443124.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.579G>A
  hgvsp: ENST00000263713.5:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.579G>A
  hgvsp: ENST00000452780.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.579G>A
  hgvsp: ENST00000331393.4:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.579G>A
  hgvsp: ENST00000443902.2:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45218
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln193Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-120834623-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834623
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834623
    reference: chr 2
allele count: 38
allele frequency: 3.133245382585752e-4
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.582T>C
  hgvsp: ENST00000452780.1:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.582T>C
  hgvsp: ENST00000443124.1:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.582T>C
  hgvsp: ENST00000331393.4:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.582T>C
  hgvsp: ENST00000443902.2:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.582T>C
  hgvsp: ENST00000263713.5:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr194Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP

2-120834630-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834630
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834630
    reference: chr 2
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.589A>G
  hgvsp: ENSP00000393722.1:p.Met197Val
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.589A>G
  hgvsp: ENSP00000263713.5:p.Met197Val
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.589A>G
  hgvsp: ENSP00000390439.1:p.Met197Val
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.589A>G
  hgvsp: ENSP00000329687.4:p.Met197Val
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.589A>G
  hgvsp: ENSP00000393856.2:p.Met197Val
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45218
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Met197Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-120834635-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834635
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834635
    reference: chr 2
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.594A>C
  hgvsp: ENSP00000393856.2:p.Glu198Asp
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.594A>C
  hgvsp: ENSP00000390439.1:p.Glu198Asp
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.594A>C
  hgvsp: ENSP00000263713.5:p.Glu198Asp
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.594A>C
  hgvsp: ENSP00000393722.1:p.Glu198Asp
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.594A>C
  hgvsp: ENSP00000329687.4:p.Glu198Asp
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu198Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-120834642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834642
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834642
    reference: chr 2
allele count: 2
allele frequency: 1.649457328538911e-5
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.601A>G
  hgvsp: ENSP00000263713.5:p.Ile201Val
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.601A>G
  hgvsp: ENSP00000393722.1:p.Ile201Val
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.601A>G
  hgvsp: ENSP00000390439.1:p.Ile201Val
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.601A>G
  hgvsp: ENSP00000393856.2:p.Ile201Val
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.601A>G
  hgvsp: ENSP00000329687.4:p.Ile201Val
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile201Val
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

2-120834646-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834646
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834646
    reference: chr 2
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.605T>C
  hgvsp: ENSP00000390439.1:p.Phe202Ser
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.605T>C
  hgvsp: ENSP00000393856.2:p.Phe202Ser
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.605T>C
  hgvsp: ENSP00000329687.4:p.Phe202Ser
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.605T>C
  hgvsp: ENSP00000263713.5:p.Phe202Ser
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.605T>C
  hgvsp: ENSP00000393722.1:p.Phe202Ser
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45219
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe202Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

2-120834664-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834664
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834664
    reference: chr 2
allele count: 2
allele frequency: 1.650655310158133e-5
allele num: 121164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.623A>G
  hgvsp: ENSP00000393722.1:p.Tyr208Cys
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.623A>G
  hgvsp: ENSP00000329687.4:p.Tyr208Cys
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.623A>G
  hgvsp: ENSP00000390439.1:p.Tyr208Cys
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.623A>G
  hgvsp: ENSP00000393856.2:p.Tyr208Cys
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.623A>G
  hgvsp: ENSP00000263713.5:p.Tyr208Cys
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr208Cys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-120834676-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834676
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834676
    reference: chr 2
allele count: 5
allele frequency: 4.130865829477858e-5
allele num: 121040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.626+9C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.626+9C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.626+9C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.626+9C>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.626+9C>T
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-120834677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834677
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834677
    reference: chr 2
allele count: 3
allele frequency: 2.478110028085247e-5
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.626+10G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.626+10G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.626+10G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.626+10G>A
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.626+10G>A
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45224
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-120834680-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834680
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834680
    reference: chr 2
allele count: 3
allele frequency: 2.478110028085247e-5
allele num: 121060
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.626+13T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.626+13T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.626+13T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.626+13T>G
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.626+13T>G
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45224
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-120834682-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 120834682
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 120834682
    reference: chr 2
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393722
  ensembl transcript: ENST00000443124
  gene symbol: EPB41L5
  hgvsc: ENST00000443124.1:c.626+15A>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000329687
  ensembl transcript: ENST00000331393
  gene symbol: EPB41L5
  hgvsc: ENST00000331393.4:c.626+15A>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000390439
  ensembl transcript: ENST00000452780
  gene symbol: EPB41L5
  hgvsc: ENST00000452780.1:c.626+15A>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000393856
  ensembl transcript: ENST00000443902
  gene symbol: EPB41L5
  hgvsc: ENST00000443902.2:c.626+15A>T
  variant of: http://identifiers.org/hgnc/19819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115109
  ensembl protein: ENSP00000263713
  ensembl transcript: ENST00000263713
  gene symbol: EPB41L5
  hgvsc: ENST00000263713.5:c.626+15A>T
  variant of: http://identifiers.org/hgnc/19819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527417137620284e-5
allele num: 65470
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.641775272983445e-4
allele num: 11356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 2.148526e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1177
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 7.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.691e0

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 2.156301e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

FS
type: SiteQuality
SIO_000300: 9.864000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

GenotypeQuality
all individuals: 215
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11930
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2443
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29212
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.04228780042592e-5
allele num: 65740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 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: 11388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.159307e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

FS
type: SiteQuality
SIO_000300: 2.749e0

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 11929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6034
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
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: 11390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519803033526855e-5
allele num: 65798
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 2.161499e6

QD
type: SiteQuality
SIO_000300: 3.45e0

VQSLOD
type: SiteQuality
SIO_000300: -2.006e0

FS
type: SiteQuality
SIO_000300: 1.267e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6039
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11937
bin: 9.75e1
variant carriers: 9

Latino
type: Population
allele count: 9
allele frequency: 7.896122126688893e-4
allele num: 11398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65822
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 8.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.919e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.28e-2

FS
type: SiteQuality
SIO_000300: 8.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.161494e6

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

FS
type: SiteQuality
SIO_000300: 3.052e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 2.161652e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.452e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.098e0

GenotypeQuality
all individuals: 2448
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519248883352071e-5
allele num: 65822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 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: 11394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.53e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: -1.487e0

DP
type: SiteQuality
SIO_000300: 2.161492e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 9.872e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

GenotypeQuality
all individuals: 1177
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1828
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11930
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65844
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215362177929023e-4
allele num: 16456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.836e0

QD
type: SiteQuality
SIO_000300: 1.355e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.934e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

DP
type: SiteQuality
SIO_000300: 2.161966e6

GenotypeQuality
all individuals: 349
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2443
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11930
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518649009840846e-5
allele num: 65848
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 5.846e1

DP
type: SiteQuality
SIO_000300: 2.159861e6

MQRankSum
type: SiteQuality
SIO_000300: -1.813e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

GenotypeQuality
all individuals: 1824
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3103
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166861143523921e-4
allele num: 8570
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.232142857142857e-3
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 300
allele frequency: 2.928543537680594e-2
allele num: 10244
num of homozygotes: 3

Latino
type: Population
allele count: 10
allele frequency: 8.775008775008775e-4
allele num: 11396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.076626257102057e-5
allele num: 65826
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

QD
type: SiteQuality
SIO_000300: 1.525e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 2.162077e6

GenotypeQuality
all individuals: 514
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5994
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65824
num of homozygotes: 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: 11392
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.907013088493846e-4
allele num: 10238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.536e0

DP
type: SiteQuality
SIO_000300: 2.15302e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 4.908e0

QD
type: SiteQuality
SIO_000300: 7.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-1

GenotypeQuality
all individuals: 11919
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65824
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.432e1

DP
type: SiteQuality
SIO_000300: 2.14957e6

QD
type: SiteQuality
SIO_000300: 1.53e1

VQSLOD
type: SiteQuality
SIO_000300: -3.562e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.55e-1

GenotypeQuality
all individuals: 5868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3097
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520034048762692e-5
allele num: 65788
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 1.421e0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

QD
type: SiteQuality
SIO_000300: 1.076e1

DP
type: SiteQuality
SIO_000300: 2.137037e6

GenotypeQuality
all individuals: 1067
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3069
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523461304082876e-5
allele num: 65640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 9.93e0

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

DP
type: SiteQuality
SIO_000300: 2.119621e6

GenotypeQuality
all individuals: 11916
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2026
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524436720631727e-5
allele num: 65598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.086427267194157e-5
allele num: 16430
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.863e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.777e0

DP
type: SiteQuality
SIO_000300: 2.113426e6

QD
type: SiteQuality
SIO_000300: 1.244e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

GenotypeQuality
all individuals: 5490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11916
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65598
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.813542688910697e-5
allele num: 10190
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

DP
type: SiteQuality
SIO_000300: 2.113426e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

FS
type: SiteQuality
SIO_000300: 5.863e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.777e0

QD
type: SiteQuality
SIO_000300: 1.244e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

GenotypeQuality
all individuals: 11916
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524436720631727e-5
allele num: 65598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.244e1

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 5.863e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.777e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

DP
type: SiteQuality
SIO_000300: 2.113426e6

GenotypeQuality
all individuals: 18770
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2090
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.758899e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.769e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.047e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

QD
type: SiteQuality
SIO_000300: 1.642e1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

GenotypeQuality
all individuals: 3537
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 16500
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.735207357279195e-4
allele num: 11526
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 5.873e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

DP
type: SiteQuality
SIO_000300: 2.759855e6

VQSLOD
type: SiteQuality
SIO_000300: -2.796e-1

QD
type: SiteQuality
SIO_000300: 1.717e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 3115
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5062
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7238
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.0058e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.133e0

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

DP
type: SiteQuality
SIO_000300: 2.760591e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.201e1

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5066
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18764
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
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: 6602
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

DP
type: SiteQuality
SIO_000300: 2.760861e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.162e1

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16119
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3116
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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: 4
allele frequency: 3.47041471455839e-4
allele num: 11526
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.761398e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.044e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3111
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.275e0

FS
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

DP
type: SiteQuality
SIO_000300: 2.761741e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.863e1

GenotypeQuality
all individuals: 16279
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18760
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 7256
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501260352898812e-5
allele num: 66648
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

QD
type: SiteQuality
SIO_000300: 1.516e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

DP
type: SiteQuality
SIO_000300: 2.762432e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

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

GenotypeQuality
all individuals: 3108
bin: 7.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 10
allele frequency: 6.059137178865729e-4
allele num: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
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: 3
allele frequency: 2.885725278953444e-4
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 74
allele frequency: 1.110144318761439e-3
allele num: 66658
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

DP
type: SiteQuality
SIO_000300: 2.765405e6

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.376e1

VQSLOD
type: SiteQuality
SIO_000300: 6.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5046
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3536
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16360
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050199537912203e-4
allele num: 66654
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.326e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.61e-1

FS
type: SiteQuality
SIO_000300: 2.838e0

DP
type: SiteQuality
SIO_000300: 2.762935e6

QD
type: SiteQuality
SIO_000300: 1.201e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

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

GenotypeQuality
all individuals: 4365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7276
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3537
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
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: 10
allele frequency: 9.62278675904542e-4
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.271e1

DP
type: SiteQuality
SIO_000300: 2.763062e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.532e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3535
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4364
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18729
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7277
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.145e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

MQRankSum
type: SiteQuality
SIO_000300: -1.891e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.762711e6

QD
type: SiteQuality
SIO_000300: 1.658e1

FS
type: SiteQuality
SIO_000300: 4.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

GenotypeQuality
all individuals: 3533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5046
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
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: 6610
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 8
allele frequency: 4.847309743092584e-4
allele num: 16504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.05e-1

DP
type: SiteQuality
SIO_000300: 2.76301e6

GenotypeQuality
all individuals: 2085
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5045
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3535
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

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

East Asian
type: Population
allele count: 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

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

DP
type: SiteQuality
SIO_000300: 2.762792e6

VQSLOD
type: SiteQuality
SIO_000300: -3.522e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.101e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.703e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.053e0

QD
type: SiteQuality
SIO_000300: 1.42e1

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16399
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5031
bin: 7.75e1
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: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.454e1

DP
type: SiteQuality
SIO_000300: 2.761963e6

FS
type: SiteQuality
SIO_000300: 9.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.24e0

GenotypeQuality
all individuals: 18721
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3533
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5027
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
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: 10376
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.515e0

DP
type: SiteQuality
SIO_000300: 2.761581e6

VQSLOD
type: SiteQuality
SIO_000300: -1.194e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7251
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16315
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

QD
type: SiteQuality
SIO_000300: 1.287e1

DP
type: SiteQuality
SIO_000300: 2.760467e6

MQ
type: SiteQuality
SIO_000300: 5.921e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

FS
type: SiteQuality
SIO_000300: 1.853e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7241
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18719
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.606882168925965e-4
allele num: 11508
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.344e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.759594e6

QD
type: SiteQuality
SIO_000300: 1.203e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: -1.36e-2

GenotypeQuality
all individuals: 5019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7226
bin: 6.75e1
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: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.75819e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

QD
type: SiteQuality
SIO_000300: 1.328e1

GenotypeQuality
all individuals: 7224
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16149
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5018
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18719
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004897983713453e-5
allele num: 66558
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.181e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 2.758106e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.312e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18717
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3533
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
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: 2
allele frequency: 3.005981903988938e-5
allele num: 66534
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

DP
type: SiteQuality
SIO_000300: 2.7566e6

VQSLOD
type: SiteQuality
SIO_000300: -2.142e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

MQ
type: SiteQuality
SIO_000300: 5.868e1

QD
type: SiteQuality
SIO_000300: 9.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.984e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

GenotypeQuality
all individuals: 347
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16019
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 16484
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.67305088024763e-5
allele num: 10338
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 2.755948e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

FS
type: SiteQuality
SIO_000300: 3.433e0

QD
type: SiteQuality
SIO_000300: 1.175e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3068
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18717
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 50
bin: 5.25e1
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: 904
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503668952243474e-5
allele num: 66504
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.151e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 2.752891e6

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 15765
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18715
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.716e0

DP
type: SiteQuality
SIO_000300: 2.752769e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQ
type: SiteQuality
SIO_000300: 5.869e1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

FS
type: SiteQuality
SIO_000300: 4.253e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.212e0

GenotypeQuality
all individuals: 2076
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4968
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.03532813300003e-5
allele num: 66406
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.747e0

VQSLOD
type: SiteQuality
SIO_000300: 9.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.449e0

QD
type: SiteQuality
SIO_000300: 1.278e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

DP
type: SiteQuality
SIO_000300: 2.736894e6

GenotypeQuality
all individuals: 216
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3526
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506886471173262e-5
allele num: 66362
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.066e1

MQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.942e0

DP
type: SiteQuality
SIO_000300: 2.731762e6

FS
type: SiteQuality
SIO_000300: 7.02e0

VQSLOD
type: SiteQuality
SIO_000300: -9.48e-2

GenotypeQuality
all individuals: 4954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.215362177929023e-4
allele num: 16456
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.72884e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.471e1

GenotypeQuality
all individuals: 18704
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 714
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6782
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2996
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.188e0

DP
type: SiteQuality
SIO_000300: 2.725956e6

MQRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.245e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.584e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18704
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4313
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014863275950436e-5
allele num: 66338
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 2.725956e6

QD
type: SiteQuality
SIO_000300: 1.584e1

MQRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.245e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 7.188e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

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

GenotypeQuality
all individuals: 4313
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6691
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.549590536851683e-4
allele num: 6594
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

QD
type: SiteQuality
SIO_000300: 1.472e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

DP
type: SiteQuality
SIO_000300: 2.720054e6

GenotypeQuality
all individuals: 1007
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6523
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18699
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

DP
type: SiteQuality
SIO_000300: 2.709625e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

FS
type: SiteQuality
SIO_000300: 2.844e0

MQ
type: SiteQuality
SIO_000300: 5.777e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 1.797e1

GenotypeQuality
all individuals: 1318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.629e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.112e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

DP
type: SiteQuality
SIO_000300: 3.077166e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.598e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.503e1

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15070
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65924
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.880283074503637e-4
allele num: 10174
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.732e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

DP
type: SiteQuality
SIO_000300: 3.101394e6

GenotypeQuality
all individuals: 1270
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45209
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
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: 15372
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.814e0

DP
type: SiteQuality
SIO_000300: 3.108902e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.534e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.048e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.641e0

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-2

FS
type: SiteQuality
SIO_000300: 1.189e0

GenotypeQuality
all individuals: 45213
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 1682
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15790
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.947040498442368e-4
allele num: 10272
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 1.619620546043498e-3
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508204633204633e-5
allele num: 66304
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

QD
type: SiteQuality
SIO_000300: 1.427e1

VQSLOD
type: SiteQuality
SIO_000300: 6.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

DP
type: SiteQuality
SIO_000300: 3.120974e6

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45213
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1285
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 8.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 66402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

DP
type: SiteQuality
SIO_000300: 3.126067e6

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.657e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

FS
type: SiteQuality
SIO_000300: 5.165e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.23e-2

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1286
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

FS
type: SiteQuality
SIO_000300: 6.343e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.254e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e-1

DP
type: SiteQuality
SIO_000300: 3.126846e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.47e0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.625346901017577e-4
allele num: 8648
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
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: 66528
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.13289e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

FS
type: SiteQuality
SIO_000300: 6.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

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

GenotypeQuality
all individuals: 1451
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45219
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1301
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
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: 11528
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.95e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

QD
type: SiteQuality
SIO_000300: 1.688e1

FS
type: SiteQuality
SIO_000300: 1.286e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

DP
type: SiteQuality
SIO_000300: 3.136076e6

GenotypeQuality
all individuals: 1689
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1301
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.220554131575735e-4
allele num: 16386
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: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
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: 11528
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.136536e6

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45217
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 973
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.019e0

QD
type: SiteQuality
SIO_000300: 1.37e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.72e-1

FS
type: SiteQuality
SIO_000300: 7.73e-1

DP
type: SiteQuality
SIO_000300: 3.137903e6

VQSLOD
type: SiteQuality
SIO_000300: -3.72e-2

GenotypeQuality
all individuals: 117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45217
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.568e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.479e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 3.341e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

DP
type: SiteQuality
SIO_000300: 3.138103e6

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 752
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 66674
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.569e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 3.138844e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45219
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7709
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 11536
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
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: 3
allele frequency: 1.820609297244811e-4
allele num: 16478
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 3.13908e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.52e-1

QD
type: SiteQuality
SIO_000300: 1.541e1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
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: 16484
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.341e1

FS
type: SiteQuality
SIO_000300: 1.149e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.689e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 3.139407e6

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45217
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1296
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 3.13961e6

FS
type: SiteQuality
SIO_000300: 4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

QD
type: SiteQuality
SIO_000300: 1.315e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

GenotypeQuality
all individuals: 45217
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

DP
type: SiteQuality
SIO_000300: 3.139535e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

QD
type: SiteQuality
SIO_000300: 1.411e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

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

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7699
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997720866070893e-5
allele num: 66692
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.99e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.139796e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.958e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

GenotypeQuality
all individuals: 754
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45220
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.820167455405897e-4
allele num: 16482
num of homozygotes: 0

East Asian
type: Population
allele count: 34
allele frequency: 3.929727230698105e-3
allele num: 8652
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.019e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.272e1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

DP
type: SiteQuality
SIO_000300: 3.143931e6

GenotypeQuality
all individuals: 1298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998770504093322e-5
allele num: 66694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 16482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.454e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

FS
type: SiteQuality
SIO_000300: 5.977e0

DP
type: SiteQuality
SIO_000300: 3.141675e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
all individuals: 1297
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45219
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
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: 1.55e0

FS
type: SiteQuality
SIO_000300: 2.476e0

DP
type: SiteQuality
SIO_000300: 3.141517e6

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.902e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

QD
type: SiteQuality
SIO_000300: 1.06e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45219
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1689
bin: 9.25e1
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: 2
allele frequency: 2.999850007499625e-5
allele num: 66670
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 3.141378e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.265e1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.08e0

GenotypeQuality
all individuals: 1299
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.141045e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.614e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45221
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1431
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 744
bin: 7.25e1
variant carriers: 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: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00147072065312e-5
allele num: 66634
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: 8652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 1.058e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

FS
type: SiteQuality
SIO_000300: 4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.138134e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.018e0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45223
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1398
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504504504504505e-5
allele num: 66600
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.223840411210378e-4
allele num: 16342
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.133851e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 1.288e1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 251
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 10378
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002732486562772e-5
allele num: 66606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.908e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

FS
type: SiteQuality
SIO_000300: 5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

DP
type: SiteQuality
SIO_000300: 3.133126e6

QD
type: SiteQuality
SIO_000300: 1.167e1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6101
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.597402597402597e-4
allele num: 11550
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: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
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: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.252e1

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

DP
type: SiteQuality
SIO_000300: 3.131977e6