20-34778308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778308
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778308
    reference: chr 20
allele count: 3
allele frequency: 2.63866167080057e-5
allele num: 113694
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1124+12C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.938+12C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.833+12C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1031+12C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1124+12C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.938+12C>T
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20172
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6063
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9072
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

20-34778316-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778316
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778316
    reference: chr 20
allele count: 6
allele frequency: 5.345592558935158e-5
allele num: 112242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1124+20G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.938+20G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.833+20G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.938+20G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1031+20G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1124+20G>T
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15306
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15609
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6065
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5920
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10766
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

20-34778317-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778317
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778317
    reference: chr 20
allele count: 4
allele frequency: 3.565380158659417e-5
allele num: 112190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.833+21G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1124+21G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1124+21G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.938+21G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.938+21G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1031+21G>C
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15367
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15605
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5916
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 355
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

20-34778318-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778318
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778318
    reference: chr 20
allele count: 1
allele frequency: 8.92889031751134e-6
allele num: 111996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1031+22G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1124+22G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.833+22G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.938+22G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1124+22G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.938+22G>T
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15150
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6060
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-34778322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778322
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778322
    reference: chr 20
allele count: 6
allele frequency: 5.381455504332072e-5
allele num: 111494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1124+26T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1031+26T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1124+26T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.938+26T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.833+26T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.938+26T>C
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5013
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

20-34778324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778324
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778324
    reference: chr 20
allele count: 1
allele frequency: 8.997660608241856e-6
allele num: 111140
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1124+28G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1124+28G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.938+28G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.833+28G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.938+28G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1031+28G>A
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10337
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4969
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6060
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

20-34778335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778335
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778335
    reference: chr 20
allele count: 2
allele frequency: 1.843385931278572e-5
allele num: 108496
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1124+39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.938+39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1031+39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.833+39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1124+39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.938+39G>A
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17943
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

20-34778347-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778347
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778347
    reference: chr 20
allele count: 2
allele frequency: 1.899948701385063e-5
allele num: 105266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1031+51A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.938+51A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.938+51A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1124+51A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1124+51A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.833+51A>G
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17484
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6051
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8648
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5577
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

20-34778501-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778501
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778501
    reference: chr 20
allele count: 1
allele frequency: 8.394754957102802e-6
allele num: 119122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1032-43G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1125-43G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.834-43G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1125-43G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.939-43G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.939-43G>C
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-34778501-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778501
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778501
    reference: chr 20
allele count: 1
allele frequency: 8.394754957102802e-6
allele num: 119122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1125-43G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.939-43G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1125-43G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.939-43G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.834-43G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1032-43G>T
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  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: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS

20-34778505-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778505
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778505
    reference: chr 20
allele count: 257
allele frequency: 2.156655421848514e-3
allele num: 119166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.939-39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1125-39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1032-39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.834-39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1125-39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.939-39G>A
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24668
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15756
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 3.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 4.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

20-34778507-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778507
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778507
    reference: chr 20
allele count: 1
allele frequency: 8.390951198227832e-6
allele num: 119176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.939-37C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1125-37C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1125-37C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.834-37C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1032-37C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.939-37C>G
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3699
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

20-34778516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778516
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778516
    reference: chr 20
allele count: 2
allele frequency: 1.677120719149364e-5
allele num: 119252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.939-28C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.834-28C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1032-28C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1125-28C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.939-28C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1125-28C>T
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3707
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35957
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

20-34778533-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778533
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778533
    reference: chr 20
allele count: 4
allele frequency: 3.347896683908334e-5
allele num: 119478
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1032-11C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1125-11C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1125-11C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.939-11C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.834-11C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.939-11C>G
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

20-34778534-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778534
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778534
    reference: chr 20
allele count: 1
allele frequency: 8.368621018628551e-6
allele num: 119494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.939-10T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1032-10T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.939-10T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1125-10T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.834-10T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1125-10T>C
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

20-34778535-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778535
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778535
    reference: chr 20
allele count: 2
allele frequency: 1.674284661878213e-5
allele num: 119454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1125-9C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.939-9C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1125-9C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1032-9C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.939-9C>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.834-9C>G
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8491
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

20-34778541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778541
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778541
    reference: chr 20
allele count: 1
allele frequency: 8.366800535475235e-6
allele num: 119520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1125-3C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1125-3C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.834-3C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.939-3C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1032-3C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.939-3C>T
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1125-3C>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

20-34778550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778550
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778550
    reference: chr 20
allele count: 2
allele frequency: 1.668919708272835e-5
allele num: 119838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1131G>A
  hgvsp: ENST00000373941.1:c.1131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1131G>A
  hgvsp: ENST00000338074.2:c.1131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.945G>A
  hgvsp: ENST00000202028.5:c.945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.840G>A
  hgvsp: ENST00000373950.2:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1038G>A
  hgvsp: ENST00000373946.3:c.1038G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.945G>A
  hgvsp: ENST00000441639.1:c.945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16905
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val377Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

20-34778551-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778551
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778551
    reference: chr 20
allele count: 1
allele frequency: 8.344180768332166e-6
allele num: 119844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.946T>G
  hgvsp: ENSP00000399214.1:p.Ser316Ala
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1132T>G
  hgvsp: ENSP00000363052.1:p.Ser378Ala
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.946T>G
  hgvsp: ENSP00000202028.5:p.Ser316Ala
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.841T>G
  hgvsp: ENSP00000363061.2:p.Ser281Ala
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1132T>G
  hgvsp: ENSP00000337168.2:p.Ser378Ala
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1039T>G
  hgvsp: ENSP00000363057.3:p.Ser347Ala
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37530
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser378Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-34778561-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778561
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778561
    reference: chr 20
allele count: 5
allele frequency: 4.167639115793685e-5
allele num: 119972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1142C>T
  hgvsp: ENSP00000363052.1:p.Pro381Leu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.956C>T
  hgvsp: ENSP00000399214.1:p.Pro319Leu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.956C>T
  hgvsp: ENSP00000202028.5:p.Pro319Leu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1142C>T
  hgvsp: ENSP00000337168.2:p.Pro381Leu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1049C>T
  hgvsp: ENSP00000363057.3:p.Pro350Leu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.851C>T
  hgvsp: ENSP00000363061.2:p.Pro284Leu
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro381Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum

20-34778578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778578
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778578
    reference: chr 20
allele count: 2
allele frequency: 1.661295145695584e-5
allele num: 120388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.868C>T
  hgvsp: ENST00000373950.2:c.868C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1159C>T
  hgvsp: ENST00000338074.2:c.1159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.973C>T
  hgvsp: ENST00000202028.5:c.973C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.973C>T
  hgvsp: ENST00000441639.1:c.973C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1159C>T
  hgvsp: ENST00000373941.1:c.1159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1066C>T
  hgvsp: ENST00000373946.3:c.1066C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu387Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

20-34778599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778599
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778599
    reference: chr 20
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1180C>T
  hgvsp: ENSP00000337168.2:p.Arg394Trp
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.994C>T
  hgvsp: ENSP00000202028.5:p.Arg332Trp
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1180C>T
  hgvsp: ENSP00000363052.1:p.Arg394Trp
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.889C>T
  hgvsp: ENSP00000363061.2:p.Arg297Trp
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.994C>T
  hgvsp: ENSP00000399214.1:p.Arg332Trp
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1087C>T
  hgvsp: ENSP00000363057.3:p.Arg363Trp
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg394Trp
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

20-34778601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778601
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778601
    reference: chr 20
allele count: 60
allele frequency: 4.962697060429108e-4
allele num: 120902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.891G>A
  hgvsp: ENST00000373950.2:c.891G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.996G>A
  hgvsp: ENST00000202028.5:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.996G>A
  hgvsp: ENST00000441639.1:c.996G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1182G>A
  hgvsp: ENST00000338074.2:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1089G>A
  hgvsp: ENST00000373946.3:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1182G>A
  hgvsp: ENST00000373941.1:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17611
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27194
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9284
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg394Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

20-34778610-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778610
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778610
    reference: chr 20
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1191G>T
  hgvsp: ENST00000338074.2:c.1191G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1005G>T
  hgvsp: ENST00000441639.1:c.1005G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1005G>T
  hgvsp: ENST00000202028.5:c.1005G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.900G>T
  hgvsp: ENST00000373950.2:c.900G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1191G>T
  hgvsp: ENST00000373941.1:c.1191G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1098G>T
  hgvsp: ENST00000373946.3:c.1098G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39152
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly397Gly
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: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

20-34778616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778616
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778616
    reference: chr 20
allele count: 179
allele frequency: 1.478336994763879e-3
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1197C>T
  hgvsp: ENST00000338074.2:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.906C>T
  hgvsp: ENST00000373950.2:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1104C>T
  hgvsp: ENST00000373946.3:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1011C>T
  hgvsp: ENST00000202028.5:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1197C>T
  hgvsp: ENST00000373941.1:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1011C>T
  hgvsp: ENST00000441639.1:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27314
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 17566
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 9.75e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr399Thr
num of homozygotes: 4
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

20-34778629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778629
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778629
    reference: chr 20
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1210C>T
  hgvsp: ENSP00000337168.2:p.Arg404Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1024C>T
  hgvsp: ENSP00000202028.5:p.Arg342Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1024C>T
  hgvsp: ENSP00000399214.1:p.Arg342Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.919C>T
  hgvsp: ENSP00000363061.2:p.Arg307Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1117C>T
  hgvsp: ENSP00000363057.3:p.Arg373Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1210C>T
  hgvsp: ENSP00000363052.1:p.Arg404Cys
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg404Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

20-34778630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778630
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778630
    reference: chr 20
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1025G>A
  hgvsp: ENSP00000202028.5:p.Arg342His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.920G>A
  hgvsp: ENSP00000363061.2:p.Arg307His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1211G>A
  hgvsp: ENSP00000337168.2:p.Arg404His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1211G>A
  hgvsp: ENSP00000363052.1:p.Arg404His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1118G>A
  hgvsp: ENSP00000363057.3:p.Arg373His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1025G>A
  hgvsp: ENSP00000399214.1:p.Arg342His
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg404His
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

20-34778640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778640
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778640
    reference: chr 20
allele count: 16
allele frequency: 1.320982150228695e-4
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1221C>T
  hgvsp: ENST00000373941.1:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1221C>T
  hgvsp: ENST00000338074.2:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.930C>T
  hgvsp: ENST00000373950.2:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1035C>T
  hgvsp: ENST00000202028.5:c.1035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1128C>T
  hgvsp: ENST00000373946.3:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1035C>T
  hgvsp: ENST00000441639.1:c.1035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser407Ser
num of homozygotes: 1
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/20-34778644-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778644
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778644
    reference: chr 20
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1039C>A
  hgvsp: ENSP00000202028.5:p.Leu347Ile
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1225C>A
  hgvsp: ENSP00000363052.1:p.Leu409Ile
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1132C>A
  hgvsp: ENSP00000363057.3:p.Leu378Ile
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1225C>A
  hgvsp: ENSP00000337168.2:p.Leu409Ile
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.934C>A
  hgvsp: ENSP00000363061.2:p.Leu312Ile
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1039C>A
  hgvsp: ENSP00000399214.1:p.Leu347Ile
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu409Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

20-34778654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778654
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778654
    reference: chr 20
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1235G>A
  hgvsp: ENSP00000337168.2:p.Arg412Gln
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1235G>A
  hgvsp: ENSP00000363052.1:p.Arg412Gln
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1142G>A
  hgvsp: ENSP00000363057.3:p.Arg381Gln
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1049G>A
  hgvsp: ENSP00000399214.1:p.Arg350Gln
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1049G>A
  hgvsp: ENSP00000202028.5:p.Arg350Gln
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.944G>A
  hgvsp: ENSP00000363061.2:p.Arg315Gln
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg412Gln
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/20-34778661-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778661
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778661
    reference: chr 20
allele count: 36
allele frequency: 2.972651605231867e-4
allele num: 121104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1242A>C
  hgvsp: ENST00000373941.1:c.1242A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1149A>C
  hgvsp: ENST00000373946.3:c.1149A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1056A>C
  hgvsp: ENST00000441639.1:c.1056A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.951A>C
  hgvsp: ENST00000373950.2:c.951A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1242A>C
  hgvsp: ENST00000338074.2:c.1242A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1056A>C
  hgvsp: ENST00000202028.5:c.1056A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17432
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27665
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9144
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8606
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala414Ala
num of homozygotes: 2
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

20-34778664-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778664
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778664
    reference: chr 20
allele count: 155
allele frequency: 1.279785986756279e-3
allele num: 121114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1152C>T
  hgvsp: ENST00000373946.3:c.1152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.954C>T
  hgvsp: ENST00000373950.2:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1245C>T
  hgvsp: ENST00000373941.1:c.1245C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1059C>T
  hgvsp: ENST00000441639.1:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1245C>T
  hgvsp: ENST00000338074.2:c.1245C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1059C>T
  hgvsp: ENST00000202028.5:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27648
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17432
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 9.75e1
  variant carriers: 155
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro415Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-34778676-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778676
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778676
    reference: chr 20
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1071T>C
  hgvsp: ENST00000441639.1:c.1071T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1257T>C
  hgvsp: ENST00000373941.1:c.1257T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1257T>C
  hgvsp: ENST00000338074.2:c.1257T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.966T>C
  hgvsp: ENST00000373950.2:c.966T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1164T>C
  hgvsp: ENST00000373946.3:c.1164T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1071T>C
  hgvsp: ENST00000202028.5:c.1071T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg419Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

20-34778689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778689
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778689
    reference: chr 20
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1084C>T
  hgvsp: ENSP00000202028.5:p.Arg362Trp
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1177C>T
  hgvsp: ENSP00000363057.3:p.Arg393Trp
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.979C>T
  hgvsp: ENSP00000363061.2:p.Arg327Trp
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1084C>T
  hgvsp: ENSP00000399214.1:p.Arg362Trp
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.3C>T
  hgvsp: ENSP00000406464.1:p.Arg2Trp
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1270C>T
  hgvsp: ENSP00000363052.1:p.Arg424Trp
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1270C>T
  hgvsp: ENSP00000337168.2:p.Arg424Trp
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg424Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-34778690-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778690
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778690
    reference: chr 20
allele count: 2
allele frequency: 1.655272871732905e-5
allele num: 120826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1085G>C
  hgvsp: ENSP00000202028.5:p.Arg362Pro
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.4G>C
  hgvsp: ENSP00000406464.1:p.Arg2Pro
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1271G>C
  hgvsp: ENSP00000363052.1:p.Arg424Pro
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1271G>C
  hgvsp: ENSP00000337168.2:p.Arg424Pro
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.980G>C
  hgvsp: ENSP00000363061.2:p.Arg327Pro
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1178G>C
  hgvsp: ENSP00000363057.3:p.Arg393Pro
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1085G>C
  hgvsp: ENSP00000399214.1:p.Arg362Pro
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg424Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/20-34778702-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778702
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778702
    reference: chr 20
allele count: 1
allele frequency: 8.302200083022e-6
allele num: 120450
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1283C>A
  hgvsp: ENSP00000337168.2:p.Ser428Tyr
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1097C>A
  hgvsp: ENSP00000399214.1:p.Ser366Tyr
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.992C>A
  hgvsp: ENSP00000363061.2:p.Ser331Tyr
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1190C>A
  hgvsp: ENSP00000363057.3:p.Ser397Tyr
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.16C>A
  hgvsp: ENSP00000406464.1:p.Ser6Tyr
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1283C>A
  hgvsp: ENSP00000363052.1:p.Ser428Tyr
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1097C>A
  hgvsp: ENSP00000202028.5:p.Ser366Tyr
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser428Tyr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD

20-34778703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778703
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778703
    reference: chr 20
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1098C>T
  hgvsp: ENST00000441639.1:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.17C>T
  hgvsp: ENST00000451082.1:c.17C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.993C>T
  hgvsp: ENST00000373950.2:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1284C>T
  hgvsp: ENST00000338074.2:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1284C>T
  hgvsp: ENST00000373941.1:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1098C>T
  hgvsp: ENST00000202028.5:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1191C>T
  hgvsp: ENST00000373946.3:c.1191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser428Ser
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

20-34778704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778704
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778704
    reference: chr 20
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1192C>T
  hgvsp: ENSP00000363057.3:p.Arg398Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1099C>T
  hgvsp: ENSP00000399214.1:p.Arg367Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1285C>T
  hgvsp: ENSP00000337168.2:p.Arg429Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1285C>T
  hgvsp: ENSP00000363052.1:p.Arg429Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1099C>T
  hgvsp: ENSP00000202028.5:p.Arg367Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.18C>T
  hgvsp: ENSP00000406464.1:p.Arg7Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.994C>T
  hgvsp: ENSP00000363061.2:p.Arg332Cys
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38550
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg429Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

20-34778705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778705
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778705
    reference: chr 20
allele count: 4
allele frequency: 3.326458652118954e-5
allele num: 120248
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1286G>A
  hgvsp: ENSP00000337168.2:p.Arg429His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.19G>A
  hgvsp: ENSP00000406464.1:p.Arg7His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.995G>A
  hgvsp: ENSP00000363061.2:p.Arg332His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1100G>A
  hgvsp: ENSP00000202028.5:p.Arg367His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1286G>A
  hgvsp: ENSP00000363052.1:p.Arg429His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1100G>A
  hgvsp: ENSP00000399214.1:p.Arg367His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1193G>A
  hgvsp: ENSP00000363057.3:p.Arg398His
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg429His
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-34778706-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778706
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778706
    reference: chr 20
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1287C>A
  hgvsp: ENST00000373941.1:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1101C>A
  hgvsp: ENST00000441639.1:c.1101C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.996C>A
  hgvsp: ENST00000373950.2:c.996C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1287C>A
  hgvsp: ENST00000338074.2:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1101C>A
  hgvsp: ENST00000202028.5:c.1101C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.20C>A
  hgvsp: ENST00000451082.1:c.20C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1194C>A
  hgvsp: ENST00000373946.3:c.1194C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8846
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg429Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/20-34778728-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778728
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778728
    reference: chr 20
allele count: 1
allele frequency: 8.411560849231184e-6
allele num: 118884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1207+9C>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1114+9C>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1300+9C>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1009+9C>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.33+9C>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1300+9C>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1114+9C>A
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

20-34778730-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778730
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778730
    reference: chr 20
allele count: 2
allele frequency: 1.684778030494482e-5
allele num: 118710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1114+11A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1300+11A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.33+11A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1207+11A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1009+11A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1300+11A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1114+11A>G
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14786
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.75e1
  variant carriers: 0
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: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

20-34778730-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778730
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778730
    reference: chr 20
allele count: 2
allele frequency: 1.684778030494482e-5
allele num: 118710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1300+11A>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1009+11A>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1114+11A>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1207+11A>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.33+11A>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1300+11A>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1114+11A>T
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24641
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

20-34778745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778745
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778745
    reference: chr 20
allele count: 20
allele frequency: 1.706659384919958e-4
allele num: 117188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1114+26C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1114+26C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1009+26C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.33+26C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1300+26C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1300+26C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1207+26C>T
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12285
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18631
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD

20-34778746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778746
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778746
    reference: chr 20
allele count: 3
allele frequency: 2.559726962457338e-5
allele num: 117200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.33+27G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1009+27G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1207+27G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1114+27G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1114+27G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1300+27G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1300+27G>A
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12245
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18233
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

20-34778746-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778746
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778746
    reference: chr 20
allele count: 1
allele frequency: 8.532423208191126e-6
allele num: 117200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1300+27G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1114+27G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1207+27G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.33+27G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1114+27G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1009+27G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1300+27G>T
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

20-34778752-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778752
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778752
    reference: chr 20
allele count: 1
allele frequency: 8.55622294094495e-6
allele num: 116874
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1300+33T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.33+33T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1114+33T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1009+33T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1114+33T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1300+33T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1207+33T>C
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10854
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5906
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

20-34778771-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778771
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778771
    reference: chr 20
allele count: 1
allele frequency: 8.77162204834918e-6
allele num: 114004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.33+52G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1207+52G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1300+52G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1114+52G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1114+52G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1300+52G>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1009+52G>C
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16373
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7361
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5981
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6874
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5339
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

20-34778771-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34778771
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34778771
    reference: chr 20
allele count: 1
allele frequency: 8.77162204834918e-6
allele num: 114004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1300+52G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1207+52G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1009+52G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1300+52G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1114+52G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1114+52G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.33+52G>T
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16373
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5981
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6874
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7361
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

20-34782083-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782083
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782083
    reference: chr 20
allele count: 1
allele frequency: 8.348778573694668e-6
allele num: 119778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.34-51T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1010-51T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1301-51T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1115-51T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1301-51T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1208-51T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1115-51T>C
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

20-34782092-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782092
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782092
    reference: chr 20
allele count: 5
allele frequency: 4.174389286847334e-5
allele num: 119778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1115-42A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1301-42A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.34-42A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1301-42A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1010-42A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1115-42A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1208-42A>G
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19971
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20431
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

20-34782095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782095
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782095
    reference: chr 20
allele count: 2
allele frequency: 1.667583837777444e-5
allele num: 119934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1301-39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.34-39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1115-39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1010-39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1301-39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1115-39G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1208-39G>A
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20423
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-34782096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782096
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782096
    reference: chr 20
allele count: 1
allele frequency: 8.334722453742291e-6
allele num: 119980
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1301-38G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1301-38G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1115-38G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1010-38G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.34-38G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1115-38G>A
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1208-38G>A
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

20-34782096-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782096
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782096
    reference: chr 20
allele count: 1
allele frequency: 8.334722453742291e-6
allele num: 119980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1010-38G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1115-38G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1208-38G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1301-38G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1115-38G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1301-38G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.34-38G>T
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20695
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6816
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-34782103-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782103
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782103
    reference: chr 20
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1208-31A>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.34-31A>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1115-31A>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1301-31A>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1010-31A>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1115-31A>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1301-31A>C
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6812
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

20-34782103-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782103
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782103
    reference: chr 20
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1301-31A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1115-31A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1301-31A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1010-31A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1115-31A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.34-31A>G
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1208-31A>G
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22195
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6812
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

20-34782106-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782106
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782106
    reference: chr 20
allele count: 5
allele frequency: 4.161395565616885e-5
allele num: 120152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.34-28G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1208-28G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1301-28G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1115-28G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1010-28G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1301-28G>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1115-28G>T
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21712
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6817
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

20-34782129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782129
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782129
    reference: chr 20
allele count: 28
allele frequency: 2.321763213320287e-4
allele num: 120598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1010-5T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1115-5T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.34-5T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1115-5T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1301-5T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1208-5T>C
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1301-5T>C
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23273
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1301-5T>C
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

20-34782131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782131
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782131
    reference: chr 20
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.34-3C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1208-3C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1301-3C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1115-3C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1301-3C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1010-3C>T
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1115-3C>T
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40098
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1301-3C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

20-34782145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782145
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782145
    reference: chr 20
allele count: 17
allele frequency: 1.408100720616251e-4
allele num: 120730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1126C>T
  hgvsp: ENSP00000399214.1:p.Arg376Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1126C>T
  hgvsp: ENSP00000202028.5:p.Arg376Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1312C>T
  hgvsp: ENSP00000363052.1:p.Arg438Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.45C>T
  hgvsp: ENSP00000406464.1:p.Arg16Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1219C>T
  hgvsp: ENSP00000363057.3:p.Arg407Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1021C>T
  hgvsp: ENSP00000363061.2:p.Arg341Cys
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1312C>T
  hgvsp: ENSP00000337168.2:p.Arg438Cys
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23336
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23119
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg438Cys
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

20-34782146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782146
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782146
    reference: chr 20
allele count: 2
allele frequency: 1.656259834042764e-5
allele num: 120754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1127G>A
  hgvsp: ENSP00000202028.5:p.Arg376His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1220G>A
  hgvsp: ENSP00000363057.3:p.Arg407His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.46G>A
  hgvsp: ENSP00000406464.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1127G>A
  hgvsp: ENSP00000399214.1:p.Arg376His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1022G>A
  hgvsp: ENSP00000363061.2:p.Arg341His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1313G>A
  hgvsp: ENSP00000337168.2:p.Arg438His
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1313G>A
  hgvsp: ENSP00000363052.1:p.Arg438His
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6826
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg438His
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

20-34782152-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782152
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782152
    reference: chr 20
allele count: 2
allele frequency: 1.655683963045134e-5
allele num: 120796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1133C>G
  hgvsp: ENSP00000202028.5:p.Ala378Gly
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1319C>G
  hgvsp: ENSP00000363052.1:p.Ala440Gly
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.52C>G
  hgvsp: ENSP00000406464.1:p.Ala18Gly
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1226C>G
  hgvsp: ENSP00000363057.3:p.Ala409Gly
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1028C>G
  hgvsp: ENSP00000363061.2:p.Ala343Gly
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1319C>G
  hgvsp: ENSP00000337168.2:p.Ala440Gly
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1133C>G
  hgvsp: ENSP00000399214.1:p.Ala378Gly
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala440Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

20-34782155-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782155
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782155
    reference: chr 20
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.55C>T
  hgvsp: ENSP00000406464.1:p.Ser19Leu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1322C>T
  hgvsp: ENSP00000337168.2:p.Ser441Leu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1031C>T
  hgvsp: ENSP00000363061.2:p.Ser344Leu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1322C>T
  hgvsp: ENSP00000363052.1:p.Ser441Leu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1229C>T
  hgvsp: ENSP00000363057.3:p.Ser410Leu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1136C>T
  hgvsp: ENSP00000399214.1:p.Ser379Leu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1136C>T
  hgvsp: ENSP00000202028.5:p.Ser379Leu
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser441Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

20-34782156-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782156
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782156
    reference: chr 20
allele count: 234
allele frequency: 1.937150236762807e-3
allele num: 120796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.56G>A
  hgvsp: ENST00000451082.1:c.56G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1230G>A
  hgvsp: ENST00000373946.3:c.1230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1032G>A
  hgvsp: ENST00000373950.2:c.1032G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1323G>A
  hgvsp: ENST00000338074.2:c.1323G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1137G>A
  hgvsp: ENST00000202028.5:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1323G>A
  hgvsp: ENST00000373941.1:c.1323G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1137G>A
  hgvsp: ENST00000441639.1:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 22933
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 3.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23581
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40717
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser441Ser
num of homozygotes: 3
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

20-34782170-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782170
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782170
    reference: chr 20
allele count: 18
allele frequency: 1.489745584559615e-4
allele num: 120826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1244A>G
  hgvsp: ENSP00000363057.3:p.His415Arg
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1046A>G
  hgvsp: ENSP00000363061.2:p.His349Arg
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.70A>G
  hgvsp: ENSP00000406464.1:p.His24Arg
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1151A>G
  hgvsp: ENSP00000202028.5:p.His384Arg
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1151A>G
  hgvsp: ENSP00000399214.1:p.His384Arg
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1337A>G
  hgvsp: ENSP00000363052.1:p.His446Arg
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1337A>G
  hgvsp: ENSP00000337168.2:p.His446Arg
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6952
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His446Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-34782171-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782171
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782171
    reference: chr 20
allele count: 6090
allele frequency: 5.040472761583156e-2
allele num: 120822
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1338T>C
  hgvsp: ENST00000338074.2:c.1338T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1047T>C
  hgvsp: ENST00000373950.2:c.1047T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.71T>C
  hgvsp: ENST00000451082.1:c.71T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1152T>C
  hgvsp: ENST00000441639.1:c.1152T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1245T>C
  hgvsp: ENST00000373946.3:c.1245T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1152T>C
  hgvsp: ENST00000202028.5:c.1152T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1338T>C
  hgvsp: ENST00000373941.1:c.1338T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 525
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 417
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 561
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 599
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 587
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 358
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 9.75e1
  variant carriers: 670
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.25e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.75e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 21292
  bin: 2.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 22695
  bin: 2.75e1
  variant carriers: 285
genotype quality: GenotypeQuality
  all individuals: 6237
  bin: 6.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 7.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39189
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 9
hgvs: p.His446His
num of homozygotes: 541
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-34782185-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782185
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782185
    reference: chr 20
allele count: 22
allele frequency: 1.823698128222558e-4
allele num: 120634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1259A>C
  hgvsp: ENSP00000363057.3:p.Asp420Ala
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1352A>C
  hgvsp: ENSP00000363052.1:p.Asp451Ala
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1061A>C
  hgvsp: ENSP00000363061.2:p.Asp354Ala
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1166A>C
  hgvsp: ENSP00000202028.5:p.Asp389Ala
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1166A>C
  hgvsp: ENSP00000399214.1:p.Asp389Ala
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1352A>C
  hgvsp: ENSP00000337168.2:p.Asp451Ala
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.85A>C
  hgvsp: ENSP00000406464.1:p.Asp29Ala
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25204
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6064
  bin: 9.75e1
  variant carriers: 22
hgvs: p.Asp451Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

20-34782187-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782187
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782187
    reference: chr 20
allele count: 6
allele frequency: 4.978261591052404e-5
allele num: 120524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1063G>A
  hgvsp: ENSP00000363061.2:p.Gly355Ser
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1354G>A
  hgvsp: ENSP00000363052.1:p.Gly452Ser
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1168G>A
  hgvsp: ENSP00000399214.1:p.Gly390Ser
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1261G>A
  hgvsp: ENSP00000363057.3:p.Gly421Ser
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.87G>A
  hgvsp: ENSP00000406464.1:p.Gly30Ser
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1168G>A
  hgvsp: ENSP00000202028.5:p.Gly390Ser
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1354G>A
  hgvsp: ENSP00000337168.2:p.Gly452Ser
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42321
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly452Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

20-34782188-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782188
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782188
    reference: chr 20
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1169G>T
  hgvsp: ENSP00000399214.1:p.Gly390Val
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1355G>T
  hgvsp: ENSP00000337168.2:p.Gly452Val
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1169G>T
  hgvsp: ENSP00000202028.5:p.Gly390Val
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1064G>T
  hgvsp: ENSP00000363061.2:p.Gly355Val
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1355G>T
  hgvsp: ENSP00000363052.1:p.Gly452Val
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.88G>T
  hgvsp: ENSP00000406464.1:p.Gly30Val
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1262G>T
  hgvsp: ENSP00000363057.3:p.Gly421Val
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6038
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly452Val
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

20-34782189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782189
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782189
    reference: chr 20
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1263T>C
  hgvsp: ENST00000373946.3:c.1263T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1356T>C
  hgvsp: ENST00000338074.2:c.1356T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.89T>C
  hgvsp: ENST00000451082.1:c.89T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1170T>C
  hgvsp: ENST00000202028.5:c.1170T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1065T>C
  hgvsp: ENST00000373950.2:c.1065T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1356T>C
  hgvsp: ENST00000373941.1:c.1356T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1170T>C
  hgvsp: ENST00000441639.1:c.1170T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6039
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly452Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

20-34782197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782197
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782197
    reference: chr 20
allele count: 2
allele frequency: 1.66237220513673e-5
allele num: 120310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1073G>A
  hgvsp: ENSP00000363061.2:p.Arg358Gln
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1178G>A
  hgvsp: ENSP00000399214.1:p.Arg393Gln
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1364G>A
  hgvsp: ENSP00000363052.1:p.Arg455Gln
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1364G>A
  hgvsp: ENSP00000337168.2:p.Arg455Gln
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1271G>A
  hgvsp: ENSP00000363057.3:p.Arg424Gln
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1178G>A
  hgvsp: ENSP00000202028.5:p.Arg393Gln
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.97G>A
  hgvsp: ENSP00000406464.1:p.Arg33Gln
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42357
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg455Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

20-34782207-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34782207
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34782207
    reference: chr 20
allele count: 2
allele frequency: 1.672520488375983e-5
allele num: 119580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363052
  ensembl transcript: ENST00000373941
  gene symbol: EPB41L1
  hgvsc: ENST00000373941.1:c.1374T>G
  hgvsp: ENSP00000363052.1:p.Asp458Glu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000337168
  ensembl transcript: ENST00000338074
  gene symbol: EPB41L1
  hgvsc: ENST00000338074.2:c.1374T>G
  hgvsp: ENSP00000337168.2:p.Asp458Glu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000406464
  ensembl transcript: ENST00000451082
  gene symbol: EPB41L1
  hgvsc: ENST00000451082.1:c.107T>G
  hgvsp: ENSP00000406464.1:p.Asp36Glu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000202028
  ensembl transcript: ENST00000202028
  gene symbol: EPB41L1
  hgvsc: ENST00000202028.5:c.1188T>G
  hgvsp: ENSP00000202028.5:p.Asp396Glu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363057
  ensembl transcript: ENST00000373946
  gene symbol: EPB41L1
  hgvsc: ENST00000373946.3:c.1281T>G
  hgvsp: ENSP00000363057.3:p.Asp427Glu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000399214
  ensembl transcript: ENST00000441639
  gene symbol: EPB41L1
  hgvsc: ENST00000441639.1:c.1188T>G
  hgvsp: ENSP00000399214.1:p.Asp396Glu
  variant of: http://identifiers.org/hgnc/3378
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088367
  ensembl protein: ENSP00000363061
  ensembl transcript: ENST00000373950
  gene symbol: EPB41L1
  hgvsc: ENST00000373950.2:c.1083T>G
  hgvsp: ENSP00000363061.2:p.Asp361Glu
  variant of: http://identifiers.org/hgnc/3378
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6028
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Asp458Glu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.226692836113837e-4
allele num: 8152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.179650238473768e-5
allele num: 62900
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.181e0

DP
type: SiteQuality
SIO_000300: 1.460753e6

QD
type: SiteQuality
SIO_000300: 1.459e1

FS
type: SiteQuality
SIO_000300: 1.1849e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.399e0

GenotypeQuality
all individuals: 769
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3647
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GenotypeQuality
all individuals: 2505
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.731753916698509e-4
allele num: 10468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6120
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.694e1

FS
type: SiteQuality
SIO_000300: 8.79e-1

DP
type: SiteQuality
SIO_000300: 1.395825e6

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

GenotypeQuality
all individuals: 620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20035
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variant carriers: 0

GenotypeQuality
all individuals: 6063
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 767
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 948
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variant carriers: 0

GenotypeQuality
all individuals: 423
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.444960041247745e-5
allele num: 62064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

DP
type: SiteQuality
SIO_000300: 1.39474e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.541e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.507e0

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

GenotypeQuality
all individuals: 620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2463
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variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.25250501002004e-4
allele num: 7984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61988
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

FS
type: SiteQuality
SIO_000300: 1.4038e1

VQSLOD
type: SiteQuality
SIO_000300: -2.189e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.387383e6

QD
type: SiteQuality
SIO_000300: 2.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.85e-1

GenotypeQuality
all individuals: 420
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6066
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 4743
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variant carriers: 0

GenotypeQuality
all individuals: 2196
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variant carriers: 0

GenotypeQuality
all individuals: 1497
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variant carriers: 0

GenotypeQuality
all individuals: 11632
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.727941891760433e-5
allele num: 61678
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.252e0

MQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

FS
type: SiteQuality
SIO_000300: 3.3275e1

VQSLOD
type: SiteQuality
SIO_000300: -2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.348873e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
all individuals: 345
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14742
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variant carriers: 0

GenotypeQuality
all individuals: 420
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variant carriers: 0

GenotypeQuality
all individuals: 725
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variant carriers: 0

GenotypeQuality
all individuals: 910
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variant carriers: 0

GenotypeQuality
all individuals: 618
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variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14976
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 2.447e0

VQSLOD
type: SiteQuality
SIO_000300: -1.687e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.313e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.678e0

MQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

DP
type: SiteQuality
SIO_000300: 1.340566e6

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6057
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6635
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variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.334333633423361e-5
allele num: 59982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

FS
type: SiteQuality
SIO_000300: 2.334e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.431e0

DP
type: SiteQuality
SIO_000300: 1.28097e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.870000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.073e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 710
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 2
allele frequency: 2.103049421661409e-4
allele num: 9510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58146
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14534
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.326e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.565e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e0

FS
type: SiteQuality
SIO_000300: 2.572e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

DP
type: SiteQuality
SIO_000300: 1.264205e6

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65472
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.108735491753207e-5
allele num: 16370
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.115e1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.619129e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 720
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variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527370478983382e-5
allele num: 65472
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

DP
type: SiteQuality
SIO_000300: 1.619129e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

QD
type: SiteQuality
SIO_000300: 1.115e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3926
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variant carriers: 255

GenotypeQuality
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GenotypeQuality
all individuals: 8236
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GenotypeQuality
all individuals: 1525
bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 189
allele frequency: 2.884879567725982e-3
allele num: 65514
num of homozygotes: 1

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

Latino
type: Population
allele count: 14
allele frequency: 1.21866295264624e-3
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 46
allele frequency: 2.810705120371502e-3
allele num: 16366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.651162790697675e-4
allele num: 6450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.052546483427648e-4
allele num: 9896
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.627886e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.58e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

GenotypeQuality
all individuals: 1541
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526484506182262e-5
allele num: 65510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.448e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 1.432e1

DP
type: SiteQuality
SIO_000300: 1.627426e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 9.320000000000001e-1

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2490
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.022244691607685e-4
allele num: 9890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65532
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

DP
type: SiteQuality
SIO_000300: 1.639056e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 9.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

FS
type: SiteQuality
SIO_000300: 2.725e0

QD
type: SiteQuality
SIO_000300: 1.109e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.95e-1

GenotypeQuality
all individuals: 678
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3718
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 861
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37208
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.431315341599805e-4
allele num: 16452
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.974e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

FS
type: SiteQuality
SIO_000300: 7.531e0

DP
type: SiteQuality
SIO_000300: 1.654454e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.79e-2

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

GenotypeQuality
all individuals: 37235
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 447
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 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: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.035e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.527e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.86e-1

DP
type: SiteQuality
SIO_000300: 1.654569e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.53e-1

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36918
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2542
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215657670799903e-4
allele num: 16452
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: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

VQSLOD
type: SiteQuality
SIO_000300: -2.747e0

QD
type: SiteQuality
SIO_000300: 1.165e1

DP
type: SiteQuality
SIO_000300: 1.654829e6

FS
type: SiteQuality
SIO_000300: 1.9494e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 862
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37180
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8509
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 251
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524157902758726e-5
allele num: 65610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.869e0

DP
type: SiteQuality
SIO_000300: 1.657568e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.822e0

FS
type: SiteQuality
SIO_000300: 2.136e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 8.33e0

MQRankSum
type: SiteQuality
SIO_000300: 3.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e0

GenotypeQuality
all individuals: 382
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3717
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
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: 65782
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

FS
type: SiteQuality
SIO_000300: 6.0e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

DP
type: SiteQuality
SIO_000300: 1.661729e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

GenotypeQuality
all individuals: 232
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3717
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 859
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 8602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

FS
type: SiteQuality
SIO_000300: 4.707e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.661972e6

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3720
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37765
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.593475685690855e-5
allele num: 65846
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.666399e6

FS
type: SiteQuality
SIO_000300: 2.72e0

QD
type: SiteQuality
SIO_000300: 1.307e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

GenotypeQuality
all individuals: 1562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 2595
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 9.25e1
variant carriers: 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: 6550
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.970831690973591e-4
allele num: 10148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 6.967e0

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

DP
type: SiteQuality
SIO_000300: 1.675084e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.096e1

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 2615
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variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 9.25e1
variant carriers: 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: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50665943470138e-5
allele num: 66372
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -8.576e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

FS
type: SiteQuality
SIO_000300: 4.991e0

DP
type: SiteQuality
SIO_000300: 1.683214e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.48e-1

GenotypeQuality
all individuals: 8766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 3758
bin: 9.75e1
variant carriers: 60

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

African
type: Population
allele count: 46
allele frequency: 4.4651523975927e-3
allele num: 10302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.029888932366133e-5
allele num: 66446
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.326007959854646e-4
allele num: 11558
num of homozygotes: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

DP
type: SiteQuality
SIO_000300: 1.685869e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.785e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2604
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.89e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.262e0

DP
type: SiteQuality
SIO_000300: 1.686192e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.653e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 3.145e0

VQSLOD
type: SiteQuality
SIO_000300: -1.931e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.73e0

QD
type: SiteQuality
SIO_000300: 1.168e1

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.595604775912787e-4
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

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

African
type: Population
allele count: 175
allele frequency: 1.688863153831307e-2
allele num: 10362
num of homozygotes: 4

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.22e-2

QD
type: SiteQuality
SIO_000300: 1.302e1

DP
type: SiteQuality
SIO_000300: 1.690434e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

FS
type: SiteQuality
SIO_000300: 1.108e0

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

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

GenotypeQuality
all individuals: 8700
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 671
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variant carriers: 0

GenotypeQuality
all individuals: 39004
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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: 902
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.568e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.387e0

MQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 1.686918e6

QD
type: SiteQuality
SIO_000300: 5.34e0

VQSLOD
type: SiteQuality
SIO_000300: -2.618e0

GenotypeQuality
all individuals: 2541
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 670
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variant carriers: 0

GenotypeQuality
all individuals: 173
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GenotypeQuality
all individuals: 38894
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GenotypeQuality
all individuals: 185
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GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 123
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GenotypeQuality
all individuals: 844
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
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: 8644
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

QD
type: SiteQuality
SIO_000300: 1.672e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.365e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.68712e6

VQSLOD
type: SiteQuality
SIO_000300: 1.77e-1

GenotypeQuality
all individuals: 2576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 94
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.926782273603083e-4
allele num: 10380
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: 13
allele frequency: 7.883565797453002e-4
allele num: 16490
num of homozygotes: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.75e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.687346e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-2

FS
type: SiteQuality
SIO_000300: 2.446e0

QD
type: SiteQuality
SIO_000300: 1.449e1

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2579
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.785e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.353e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.102e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.687005e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 665
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.909e1

FS
type: SiteQuality
SIO_000300: 1.6075e1

QD
type: SiteQuality
SIO_000300: 1.199e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 34

GenotypeQuality
all individuals: 1494
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

South Asian
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allele count: 35
allele frequency: 2.123528697973547e-3
allele num: 16482
num of homozygotes: 2

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

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.26e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.54e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 1.689366e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 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: 6552
num of homozygotes: 0

European (Non-Finnish)
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allele count: 43
allele frequency: 6.45587484610996e-4
allele num: 66606
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.213297743266198e-4
allele num: 16484
num of homozygotes: 0

African
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allele count: 95
allele frequency: 9.159274971075973e-3
allele num: 10372
num of homozygotes: 0

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

Latino
type: Population
allele count: 15
allele frequency: 1.298701298701299e-3
allele num: 11550
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

QD
type: SiteQuality
SIO_000300: 1.321e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.64e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

QD
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ClippingRankSum
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SIO_000300: -9.379999999999999e-1

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

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 898
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.883e1

ClippingRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

DP
type: SiteQuality
SIO_000300: 1.682166e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21713729308666e-4
allele num: 16432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.18e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

FS
type: SiteQuality
SIO_000300: 2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 1.158e1

DP
type: SiteQuality
SIO_000300: 1.681318e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.034e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 6.806e0

DP
type: SiteQuality
SIO_000300: 1.670298e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.403e0

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.349e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 1.668538e6

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 2.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 892
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.783e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.069e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

DP
type: SiteQuality
SIO_000300: 1.667502e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.52e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.485130111524163e-4
allele num: 8608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

Other
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allele num: 892
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16360
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6476
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.919e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.25e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 775
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.841732979664014e-5
allele num: 11310
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.381e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.617e0

QD
type: SiteQuality
SIO_000300: 1.167e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.784e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.096e0

DP
type: SiteQuality
SIO_000300: 1.602073e6

GenotypeQuality
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 926
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.996406468356957e-4
allele num: 10018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

FS
type: SiteQuality
SIO_000300: 1.638e0

DP
type: SiteQuality
SIO_000300: 1.590012e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

GenotypeQuality
all individuals: 2025
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3621
bin: 9.75e1
variant carriers: 2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.053341882690605e-5
allele num: 65502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.638e0

DP
type: SiteQuality
SIO_000300: 1.590012e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.176e1

GenotypeQuality
all individuals: 2936
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 551
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25287
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3626
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 5292
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.904308497976672e-3
allele num: 8402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.633061527057079e-5
allele num: 64752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11132
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.241418050181001e-5
allele num: 16022
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

QD
type: SiteQuality
SIO_000300: 2.174e1

DP
type: SiteQuality
SIO_000300: 1.452246e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 4.677e0

VQSLOD
type: SiteQuality
SIO_000300: -1.829e0

GenotypeQuality
all individuals: 5208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4662
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64712
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.870324189526185e-4
allele num: 16040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.442291e6

FS
type: SiteQuality
SIO_000300: 9.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

GenotypeQuality
all individuals: 709
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5739
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4662
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545308443565336e-5
allele num: 64712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

DP
type: SiteQuality
SIO_000300: 1.442291e6

GenotypeQuality
all individuals: 20227
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
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variant carriers: 0

GenotypeQuality
all individuals: 4636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3603
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.191327138432213e-4
allele num: 8394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64566
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

QD
type: SiteQuality
SIO_000300: 9.56e0

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

FS
type: SiteQuality
SIO_000300: 2.395e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.378885e6

GenotypeQuality
all individuals: 3635
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3605
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1582
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3033
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7136
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4714
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10774
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.345982992765579e-5
allele num: 15758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

DP
type: SiteQuality
SIO_000300: 1.287697e6

FS
type: SiteQuality
SIO_000300: 4.638e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.547e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

GenotypeQuality
all individuals: 302
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5339
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3605
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1276
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4714
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9488
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.345982992765579e-5
allele num: 15758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.547e1

FS
type: SiteQuality
SIO_000300: 4.638e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 1.287697e6

GenotypeQuality
all individuals: 1778
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6308
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27355
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3288
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6832
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1004
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513500423780119e-5
allele num: 66072
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 1.434e1

VQSLOD
type: SiteQuality
SIO_000300: 6.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.812871e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 33677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6342
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6822
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 359
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.83981356555869e-4
allele num: 16306
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513134003147319e-5
allele num: 66088
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.298e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

QD
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SIO_000300: 1.515e1

GenotypeQuality
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variant carriers: 2

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511852926947267e-5
allele num: 66144
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.593879502709595e-4
allele num: 6274
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.75e-1

DP
type: SiteQuality
SIO_000300: 1.839919e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

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

Latino
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allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5109391998066e-5
allele num: 66184
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

InbreedingCoeff
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SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.9e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5109391998066e-5
allele num: 66184
num of homozygotes: 0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.84233e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66248
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.179e1

FS
type: SiteQuality
SIO_000300: 1.281e0

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

DP
type: SiteQuality
SIO_000300: 1.860952e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

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

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

GenotypeQuality
all individuals: 921
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66248
num of homozygotes: 0

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

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 1.281e0

QD
type: SiteQuality
SIO_000300: 1.179e1

DP
type: SiteQuality
SIO_000300: 1.860952e6

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 5
allele frequency: 4.358437935843794e-4
allele num: 11472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66256
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

FS
type: SiteQuality
SIO_000300: 4.262e0

DP
type: SiteQuality
SIO_000300: 1.867056e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 22
allele frequency: 3.310361431279906e-4
allele num: 66458
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734906315058987e-4
allele num: 11528
num of homozygotes: 0

Other
type: Population
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allele num: 894
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.43605359317905e-4
allele num: 16420
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MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.72e-1

VQSLOD
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6372
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

Latino
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allele count: 0
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allele num: 11532
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South Asian
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allele num: 16430
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Other
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FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 9.121868158598881e-4
allele num: 16444
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African
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allele frequency: 9.68429207824908e-5
allele num: 10326
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
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Other
type: Population
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allele num: 894
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Latino
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.903531e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.903518e6

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1825
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40690
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6829
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1531
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005981903988938e-5
allele num: 66534
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: 10328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 2.357e1

VQSLOD
type: SiteQuality
SIO_000300: -2.416e0

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

DP
type: SiteQuality
SIO_000300: 1.905367e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 869
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6829
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.597e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.506e0

DP
type: SiteQuality
SIO_000300: 1.906429e6

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7007
bin: 9.75e1
variant carriers: 231

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005801196308876e-5
allele num: 66538
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: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.563477173233271e-4
allele num: 6396
num of homozygotes: 0

African
type: Population
allele count: 223
allele frequency: 2.158343012001548e-2
allele num: 10332
num of homozygotes: 3

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

Latino
type: Population
allele count: 7
allele frequency: 6.066909343040389e-4
allele num: 11538
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.913218e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.21e-2

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

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

GenotypeQuality
all individuals: 366
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 418
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.254215382765772e-4
allele num: 66542
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
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: 0
allele frequency: 0.0e0
allele num: 10340
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: 8646
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 1.763e0

QD
type: SiteQuality
SIO_000300: 1.018e1

DP
type: SiteQuality
SIO_000300: 1.914686e6

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1122
bin: 7.75e1
variant carriers: 16

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 19

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 13

GenotypeQuality
all individuals: 400
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 490
bin: 8.25e1
variant carriers: 23

GenotypeQuality
all individuals: 10900
bin: 9.75e1
variant carriers: 5395

South Asian
type: Population
allele count: 456
allele frequency: 2.771025765678172e-2
allele num: 16456
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 95
allele frequency: 1.482984701842023e-2
allele num: 6406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 587
allele frequency: 8.820965948366543e-3
allele num: 66546
num of homozygotes: 9

Other
type: Population
allele count: 31
allele frequency: 3.459821428571429e-2
allele num: 896
num of homozygotes: 1

Latino
type: Population
allele count: 773
allele frequency: 6.701924744234437e-2
allele num: 11534
num of homozygotes: 25

African
type: Population
allele count: 2920
allele frequency: 2.821801314263626e-1
allele num: 10348
num of homozygotes: 409

East Asian
type: Population
allele count: 1228
allele frequency: 1.4219546086151e-1
allele num: 8636
num of homozygotes: 91

DP
type: SiteQuality
SIO_000300: 2.060795e6

VQSLOD
type: SiteQuality
SIO_000300: 6.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.289e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.38e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6985
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 11
allele frequency: 9.556907037358819e-4
allele num: 11510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
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: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.503895088278642e-4
allele num: 66494
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 1.899996e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.222e1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 708
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6921
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6043
bin: 9.75e1
variant carriers: 6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.478865889719951e-4
allele num: 11498
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.217e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

DP
type: SiteQuality
SIO_000300: 1.898026e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

GenotypeQuality
all individuals: 1603
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42451
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6933
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.0960741282614e-5
allele num: 16404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

FS
type: SiteQuality
SIO_000300: 3.147e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.007e0

DP
type: SiteQuality
SIO_000300: 1.897516e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1604
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6923
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
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: 10302
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 1.897595e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.109e0

QD
type: SiteQuality
SIO_000300: 8.529999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.635e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.706e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.895e1

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6856
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6036
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.119202056051891e-5
allele num: 16342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 9.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 1.894532e6

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6655
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41059
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027917398413371e-5
allele num: 66052
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.602e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0