22-44112873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44112873
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44112873
    reference: chr 22
allele count: 3
allele frequency: 2.59920291110726e-5
allele num: 115420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1072-21G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.758-21G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.302-21G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.440-21G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.440-21G>A
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

22-44112874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44112874
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44112874
    reference: chr 22
allele count: 2
allele frequency: 1.733222407099279e-5
allele num: 115392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.758-22C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.302-22C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1072-22C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.440-22C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.440-22C>T
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18671
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7206
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

22-44112885-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44112885
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44112885
    reference: chr 22
allele count: 1
allele frequency: 8.758561493860249e-6
allele num: 114174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.440-33T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.302-33T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.758-33T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1072-33T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.440-33T>C
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7822
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

22-44112889-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44112889
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44112890
    reference: chr 22
allele count: 1
allele frequency: 8.821609414421567e-6
allele num: 113358
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.302-38dupG
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1072-38dupG
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.440-38dupG
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.758-38dupG
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.440-38dupG
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11652
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

22-44112904-T-TATTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44112904
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44112909
    reference: chr 22
allele count: 1
allele frequency: 9.116767558894318e-6
allele num: 109688
alternate allele: TATTTC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.758-53_758-52insGAAAT
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.440-53_440-52insGAAAT
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.440-53_440-52insGAAAT
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.302-53_302-52insGAAAT
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1072-53_1072-52insGAAAT
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7742
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7169
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

22-44127539-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127539
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127538
    reference: chr 22
allele count: 1
allele frequency: 1.246354413340978e-5
allele num: 80234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.301+39delT
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.439+39delT
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.757+39delT
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.439+39delT
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1071+39delT
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5012
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5756
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7597
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GA
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

22-44127543-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127543
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127543
    reference: chr 22
allele count: 35
allele frequency: 4.320027648176948e-4
allele num: 81018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1071+36A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.301+36A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.439+36A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.757+36A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.439+36A>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16590
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11605
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16020
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

22-44127545-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127545
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127545
    reference: chr 22
allele count: 1
allele frequency: 1.234385029378364e-5
allele num: 81012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.439+34C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.439+34C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.301+34C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.757+34C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1071+34C>T
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-44127555-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127555
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127555
    reference: chr 22
allele count: 3
allele frequency: 3.537568982595161e-5
allele num: 84804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.301+24C>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.439+24C>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1071+24C>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.757+24C>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.439+24C>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11464
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

22-44127557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127557
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127557
    reference: chr 22
allele count: 9
allele frequency: 1.039813295746008e-4
allele num: 86554
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.757+22A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.301+22A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.439+22A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.439+22A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1071+22A>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10350
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22018
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15993
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

22-44127566-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127566
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127566
    reference: chr 22
allele count: 1
allele frequency: 1.069427214783762e-5
allele num: 93508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.439+13A>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.301+13A>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1071+13A>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.757+13A>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.439+13A>T
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

22-44127566-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127566
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127566
    reference: chr 22
allele count: 1
allele frequency: 1.069427214783762e-5
allele num: 93508
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.757+13A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.439+13A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.439+13A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.301+13A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1071+13A>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-44127579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127579
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127579
    reference: chr 22
allele count: 4
allele frequency: 3.814682713765283e-5
allele num: 104858
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.757G>A
  hgvsp: ENSP00000262726.7:p.Glu253Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.439G>A
  hgvsp: ENSP00000351219.4:p.Glu147Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.301G>A
  hgvsp: ENSP00000379533.2:p.Glu101Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.439G>A
  hgvsp: ENSP00000348391.4:p.Glu147Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1071G>A
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu253Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

22-44127580-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127580
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127580
    reference: chr 22
allele count: 2
allele frequency: 1.891360266303526e-5
allele num: 105744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.438A>G
  hgvsp: ENST00000358439.4:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.300A>G
  hgvsp: ENST00000396231.2:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.438A>G
  hgvsp: ENST00000356087.4:c.438A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1070A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.756A>G
  hgvsp: ENST00000262726.7:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.25e1
  variant carriers: 0
hgvs: c.756A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

22-44127593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127593
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127593
    reference: chr 22
allele count: 2
allele frequency: 1.767752656048366e-5
allele num: 113138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.425G>A
  hgvsp: ENSP00000351219.4:p.Cys142Tyr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.743G>A
  hgvsp: ENSP00000262726.7:p.Cys248Tyr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1057G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.425G>A
  hgvsp: ENSP00000348391.4:p.Cys142Tyr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.287G>A
  hgvsp: ENSP00000379533.2:p.Cys96Tyr
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys248Tyr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

22-44127597-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127597
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127597
    reference: chr 22
allele count: 2
allele frequency: 1.747457449411107e-5
allele num: 114452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.421T>C
  hgvsp: ENSP00000351219.4:p.Tyr141His
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1053T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.421T>C
  hgvsp: ENSP00000348391.4:p.Tyr141His
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.739T>C
  hgvsp: ENSP00000262726.7:p.Tyr247His
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.283T>C
  hgvsp: ENSP00000379533.2:p.Tyr95His
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42690
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr247His
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

22-44127606-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127606
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127606
    reference: chr 22
allele count: 1
allele frequency: 8.578683686775101e-6
allele num: 116568
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.730A>T
  hgvsp: ENSP00000262726.7:p.Asn244Tyr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.412A>T
  hgvsp: ENSP00000348391.4:p.Asn138Tyr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.412A>T
  hgvsp: ENSP00000351219.4:p.Asn138Tyr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.274A>T
  hgvsp: ENSP00000379533.2:p.Asn92Tyr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1044A>T
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn244Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

22-44127612-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127612
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127612
    reference: chr 22
allele count: 1
allele frequency: 8.493867427717188e-6
allele num: 117732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.406G>A
  hgvsp: ENSP00000351219.4:p.Asp136Asn
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.268G>A
  hgvsp: ENSP00000379533.2:p.Asp90Asn
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1038G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.406G>A
  hgvsp: ENSP00000348391.4:p.Asp136Asn
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.724G>A
  hgvsp: ENSP00000262726.7:p.Asp242Asn
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp242Asn
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

22-44127613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127613
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127613
    reference: chr 22
allele count: 7
allele frequency: 5.937335663030756e-5
allele num: 117898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1037C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.405C>T
  hgvsp: ENST00000356087.4:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.723C>T
  hgvsp: ENST00000262726.7:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.405C>T
  hgvsp: ENST00000358439.4:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.267C>T
  hgvsp: ENST00000396231.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn241Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

22-44127614-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127614
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127614
    reference: chr 22
allele count: 1
allele frequency: 8.470843357164639e-6
allele num: 118052
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.722A>G
  hgvsp: ENSP00000262726.7:p.Asn241Ser
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1036A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.404A>G
  hgvsp: ENSP00000351219.4:p.Asn135Ser
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.266A>G
  hgvsp: ENSP00000379533.2:p.Asn89Ser
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.404A>G
  hgvsp: ENSP00000348391.4:p.Asn135Ser
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn241Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ

22-44127618-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127618
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127618
    reference: chr 22
allele count: 2
allele frequency: 1.689246258319538e-5
allele num: 118396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1032A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.400A>G
  hgvsp: ENSP00000348391.4:p.Asn134Asp
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.262A>G
  hgvsp: ENSP00000379533.2:p.Asn88Asp
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.718A>G
  hgvsp: ENSP00000262726.7:p.Asn240Asp
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.400A>G
  hgvsp: ENSP00000351219.4:p.Asn134Asp
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn240Asp
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

22-44127625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127625
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127625
    reference: chr 22
allele count: 2
allele frequency: 1.684097071355193e-5
allele num: 118758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.393C>T
  hgvsp: ENST00000356087.4:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.255C>T
  hgvsp: ENST00000396231.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.711C>T
  hgvsp: ENST00000262726.7:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1025C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.393C>T
  hgvsp: ENST00000358439.4:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu237Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

22-44127629-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127629
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127629
    reference: chr 22
allele count: 45
allele frequency: 3.786094097058626e-4
allele num: 118856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.389A>C
  hgvsp: ENSP00000351219.4:p.Asn130Thr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1021A>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.707A>C
  hgvsp: ENSP00000262726.7:p.Asn236Thr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.389A>C
  hgvsp: ENSP00000348391.4:p.Asn130Thr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.251A>C
  hgvsp: ENSP00000379533.2:p.Asn84Thr
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44564
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 9.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn236Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

22-44127642-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127642
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127642
    reference: chr 22
allele count: 1
allele frequency: 8.421903687109433e-6
allele num: 118738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1008G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.376G>A
  hgvsp: ENSP00000348391.4:p.Val126Met
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.694G>A
  hgvsp: ENSP00000262726.7:p.Val232Met
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.238G>A
  hgvsp: ENSP00000379533.2:p.Val80Met
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.376G>A
  hgvsp: ENSP00000351219.4:p.Val126Met
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val232Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

22-44127643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127643
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127643
    reference: chr 22
allele count: 66
allele frequency: 5.56079805877595e-4
allele num: 118688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1007C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.375C>T
  hgvsp: ENST00000358439.4:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.375C>T
  hgvsp: ENST00000356087.4:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.237C>T
  hgvsp: ENST00000396231.2:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.693C>T
  hgvsp: ENST00000262726.7:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43969
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8455
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn231Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

22-44127649-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127649
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127649
    reference: chr 22
allele count: 1
allele frequency: 8.452228007302725e-6
allele num: 118312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.1001T>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.369T>A
  hgvsp: ENSP00000348391.4:p.Asp123Glu
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.231T>A
  hgvsp: ENSP00000379533.2:p.Asp77Glu
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.369T>A
  hgvsp: ENSP00000351219.4:p.Asp123Glu
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.687T>A
  hgvsp: ENSP00000262726.7:p.Asp229Glu
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp229Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

22-44127654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127654
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127654
    reference: chr 22
allele count: 4
allele frequency: 3.397027600849257e-5
allele num: 117750
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.682G>A
  hgvsp: ENSP00000262726.7:p.Val228Ile
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.226G>A
  hgvsp: ENSP00000379533.2:p.Val76Ile
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.996G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.364G>A
  hgvsp: ENSP00000348391.4:p.Val122Ile
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.364G>A
  hgvsp: ENSP00000351219.4:p.Val122Ile
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val228Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

22-44127659-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127659
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127659
    reference: chr 22
allele count: 15
allele frequency: 1.27966694534969e-4
allele num: 117218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.221C>A
  hgvsp: ENSP00000379533.2:p.Thr74Asn
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.677C>A
  hgvsp: ENSP00000262726.7:p.Thr226Asn
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.359C>A
  hgvsp: ENSP00000351219.4:p.Thr120Asn
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.359C>A
  hgvsp: ENSP00000348391.4:p.Thr120Asn
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.991C>A
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr226Asn
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

22-44127664-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127664
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127664
    reference: chr 22
allele count: 2
allele frequency: 1.713913550200528e-5
allele num: 116692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.216G>C
  hgvsp: ENSP00000379533.2:p.Lys72Asn
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.354G>C
  hgvsp: ENSP00000351219.4:p.Lys118Asn
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.672G>C
  hgvsp: ENSP00000262726.7:p.Lys224Asn
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.986G>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.354G>C
  hgvsp: ENSP00000348391.4:p.Lys118Asn
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8548
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys224Asn
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

22-44127668-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127668
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127668
    reference: chr 22
allele count: 2
allele frequency: 1.724316308583647e-5
allele num: 115988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.212A>T
  hgvsp: ENSP00000379533.2:p.His71Leu
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.982A>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.350A>T
  hgvsp: ENSP00000348391.4:p.His117Leu
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.350A>T
  hgvsp: ENSP00000351219.4:p.His117Leu
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.668A>T
  hgvsp: ENSP00000262726.7:p.His223Leu
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His223Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

22-44127668-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127668
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127668
    reference: chr 22
allele count: 1
allele frequency: 8.621581542918233e-6
allele num: 115988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.350A>C
  hgvsp: ENSP00000348391.4:p.His117Pro
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.350A>C
  hgvsp: ENSP00000351219.4:p.His117Pro
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.212A>C
  hgvsp: ENSP00000379533.2:p.His71Pro
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.668A>C
  hgvsp: ENSP00000262726.7:p.His223Pro
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.982A>C
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His223Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

22-44127671-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127671
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127671
    reference: chr 22
allele count: 2
allele frequency: 1.736472876293672e-5
allele num: 115176
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.665T>C
  hgvsp: ENSP00000262726.7:p.Ile222Thr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.979T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.347T>C
  hgvsp: ENSP00000348391.4:p.Ile116Thr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.209T>C
  hgvsp: ENSP00000379533.2:p.Ile70Thr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.347T>C
  hgvsp: ENSP00000351219.4:p.Ile116Thr
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile222Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

22-44127674-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127674
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127674
    reference: chr 22
allele count: 1
allele frequency: 8.787346221441125e-6
allele num: 113800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.344A>G
  hgvsp: ENSP00000351219.4:p.Asn115Ser
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.344A>G
  hgvsp: ENSP00000348391.4:p.Asn115Ser
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.206A>G
  hgvsp: ENSP00000379533.2:p.Asn69Ser
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.662A>G
  hgvsp: ENSP00000262726.7:p.Asn221Ser
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.976A>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
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genotype depth: GenotypeDepth
  all individuals: 3690
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genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44418
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn221Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

22-44127677-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127677
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127677
    reference: chr 22
allele count: 4
allele frequency: 3.555745195299305e-5
allele num: 112494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.973A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.203A>G
  hgvsp: ENSP00000379533.2:p.Tyr68Cys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.659A>G
  hgvsp: ENSP00000262726.7:p.Tyr220Cys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.341A>G
  hgvsp: ENSP00000351219.4:p.Tyr114Cys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.341A>G
  hgvsp: ENSP00000348391.4:p.Tyr114Cys
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8124
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 191
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 729
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 122
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genotype quality: GenotypeQuality
  all individuals: 1948
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43120
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr220Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

22-44127679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127679
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127679
    reference: chr 22
allele count: 1
allele frequency: 8.954635814961405e-6
allele num: 111674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.339C>T
  hgvsp: ENST00000356087.4:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.657C>T
  hgvsp: ENST00000262726.7:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.971C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.201C>T
  hgvsp: ENST00000396231.2:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.339C>T
  hgvsp: ENST00000358439.4:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His219His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

22-44127681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127681
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127681
    reference: chr 22
allele count: 1
allele frequency: 9.02967150055081e-6
allele num: 110746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.969C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.655C>T
  hgvsp: ENSP00000262726.7:p.His219Tyr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.199C>T
  hgvsp: ENSP00000379533.2:p.His67Tyr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.337C>T
  hgvsp: ENSP00000351219.4:p.His113Tyr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.337C>T
  hgvsp: ENSP00000348391.4:p.His113Tyr
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His219Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

22-44127685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127685
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127685
    reference: chr 22
allele count: 1
allele frequency: 9.198447302095407e-6
allele num: 108714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.195G>A
  hgvsp: ENST00000396231.2:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.965G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.333G>A
  hgvsp: ENST00000358439.4:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.651G>A
  hgvsp: ENST00000262726.7:c.651G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.333G>A
  hgvsp: ENST00000356087.4:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser217Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

22-44127686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127686
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127686
    reference: chr 22
allele count: 2
allele frequency: 1.849762305543737e-5
allele num: 108122
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.650C>T
  hgvsp: ENSP00000262726.7:p.Ser217Leu
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.964C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.332C>T
  hgvsp: ENSP00000348391.4:p.Ser111Leu
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.194C>T
  hgvsp: ENSP00000379533.2:p.Ser65Leu
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.332C>T
  hgvsp: ENSP00000351219.4:p.Ser111Leu
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser217Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

22-44127693-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127693
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127694
    reference: chr 22
allele count: 1
allele frequency: 9.551828219921294e-6
allele num: 104692
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.327-3dupT
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.327-3dupT
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.959-3dupT
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.645-3dupT
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.189-3dupT
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
hgvs: c.645-3dupT
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/22-44127695-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127695
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127695
    reference: chr 22
allele count: 1
allele frequency: 9.638925838104602e-6
allele num: 103746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.959-4T>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.327-4T>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.327-4T>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.189-4T>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.645-4T>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 2.75e1
  variant carriers: 0
hgvs: c.645-4T>G
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum

22-44127698-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127698
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127698
    reference: chr 22
allele count: 1
allele frequency: 9.781099004284121e-6
allele num: 102238
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.645-7A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.959-7A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.327-7A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.189-7A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.327-7A>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16704
  bin: 2.25e1
  variant carriers: 0
hgvs: c.645-7A>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

22-44127703-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127703
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127703
    reference: chr 22
allele count: 1
allele frequency: 1.003834648356723e-5
allele num: 99618
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.645-12T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.327-12T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.959-12T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.327-12T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.189-12T>C
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

22-44127714-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127714
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127714
    reference: chr 22
allele count: 1
allele frequency: 1.065734504220309e-5
allele num: 93832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.327-23A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.959-23A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.327-23A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.189-23A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.645-23A>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22010
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-44127716-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127716
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127716
    reference: chr 22
allele count: 2
allele frequency: 2.189573252173151e-5
allele num: 91342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.327-25T>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.959-25T>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.327-25T>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.189-25T>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.645-25T>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6402
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4832
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

22-44127728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127728
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127728
    reference: chr 22
allele count: 1
allele frequency: 1.146631197541623e-5
allele num: 87212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.959-37C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.327-37C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.645-37C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.327-37C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.189-37C>T
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4078
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

22-44127739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44127739
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44127739
    reference: chr 22
allele count: 4
allele frequency: 4.961794184777215e-5
allele num: 80616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.327-48C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.327-48C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.189-48C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.645-48C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.959-48C>T
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18527
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7450
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4999
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4960
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

22-44131686-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131686
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131686
    reference: chr 22
allele count: 22
allele frequency: 1.831318882562515e-4
allele num: 120132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+51A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+51A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+51A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+51A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+51A>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7626
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23816
  bin: 9.75e1
  variant carriers: 23
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-44131687-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131687
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131687
    reference: chr 22
allele count: 1
allele frequency: 8.326533331112925e-6
allele num: 120098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+50A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+50A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+50A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+50A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+50A>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

22-44131692-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131692
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131692
    reference: chr 22
allele count: 2
allele frequency: 1.665195743759679e-5
allele num: 120106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+45T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+45T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+45T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+45T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+45T>C
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23801
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

22-44131700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131700
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131700
    reference: chr 22
allele count: 3
allele frequency: 2.494346148729547e-5
allele num: 120272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+37A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+37A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+37A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+37A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+37A>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

22-44131703-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131703
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131703
    reference: chr 22
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+34A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+34A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+34A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+34A>G
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+34A>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

22-44131705-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131705
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131705
    reference: chr 22
allele count: 2
allele frequency: 1.66118475696867e-5
allele num: 120396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+32T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+32T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+32T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+32T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+32T>C
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-44131706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131706
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131706
    reference: chr 22
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+31C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+31C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+31C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+31C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+31C>T
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23798
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

22-44131712-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131712
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131712
    reference: chr 22
allele count: 2
allele frequency: 1.658402295228776e-5
allele num: 120598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+25A>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+25A>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+25A>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+25A>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+25A>C
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14108
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

22-44131713-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131713
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131713
    reference: chr 22
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+24G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+24G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+24G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+24G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+24G>A
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23795
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/22-44131718-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131718
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131718
    reference: chr 22
allele count: 1
allele frequency: 8.278693953241936e-6
allele num: 120792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+19G>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+19G>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+19G>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+19G>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+19G>T
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23796
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

22-44131718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131718
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131718
    reference: chr 22
allele count: 1
allele frequency: 8.278693953241936e-6
allele num: 120792
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+19G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+19G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+19G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+19G>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+19G>A
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

22-44131719-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131719
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131719
    reference: chr 22
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+18C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+18C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+18C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+18C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+18C>T
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23795
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

22-44131719-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131719
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131719
    reference: chr 22
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+18C>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+18C>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+18C>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+18C>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+18C>A
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23795
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/22-44131726-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131726
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131726
    reference: chr 22
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+11G>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+11G>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+11G>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+11G>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+11G>T
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23795
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5968
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-44131735-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131735
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131735
    reference: chr 22
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.644+2T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.188+2T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.326+2T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.958+2T>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.326+2T>C
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 8.25e1
  variant carriers: 0
hgvs: c.644+2T>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

22-44131741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131741
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131741
    reference: chr 22
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.184G>A
  hgvsp: ENSP00000379533.2:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.322G>A
  hgvsp: ENSP00000351219.4:p.Glu108Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.322G>A
  hgvsp: ENSP00000348391.4:p.Glu108Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.640G>A
  hgvsp: ENSP00000262726.7:p.Glu214Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.954G>A
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu214Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

22-44131742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131742
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131742
    reference: chr 22
allele count: 3
allele frequency: 2.472799208704253e-5
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.183C>T
  hgvsp: ENST00000396231.2:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.321C>T
  hgvsp: ENST00000358439.4:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.953C>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.321C>T
  hgvsp: ENST00000356087.4:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.639C>T
  hgvsp: ENST00000262726.7:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15020
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr213Tyr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-44131742-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131742
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131742
    reference: chr 22
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.321C>A
  hgvsp: ENSP00000351219.4:p.Tyr107Ter
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.321C>A
  hgvsp: ENSP00000348391.4:p.Tyr107Ter
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.953C>A
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.183C>A
  hgvsp: ENSP00000379533.2:p.Tyr61Ter
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.639C>A
  hgvsp: ENSP00000262726.7:p.Tyr213Ter
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23804
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr213Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

22-44131750-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131750
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131750
    reference: chr 22
allele count: 3
allele frequency: 2.472269378471478e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.313G>A
  hgvsp: ENSP00000351219.4:p.Glu105Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.175G>A
  hgvsp: ENSP00000379533.2:p.Glu59Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.631G>A
  hgvsp: ENSP00000262726.7:p.Glu211Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.313G>A
  hgvsp: ENSP00000348391.4:p.Glu105Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.945G>A
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23807
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu211Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

22-44131751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131751
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131751
    reference: chr 22
allele count: 7
allele frequency: 5.768343331795108e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.312C>T
  hgvsp: ENST00000356087.4:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.630C>T
  hgvsp: ENST00000262726.7:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.312C>T
  hgvsp: ENST00000358439.4:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.174C>T
  hgvsp: ENST00000396231.2:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.944C>T
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23805
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp210Asp
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

22-44131751-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131751
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131751
    reference: chr 22
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.630C>G
  hgvsp: ENSP00000262726.7:p.Asp210Glu
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.312C>G
  hgvsp: ENSP00000351219.4:p.Asp104Glu
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.312C>G
  hgvsp: ENSP00000348391.4:p.Asp104Glu
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.174C>G
  hgvsp: ENSP00000379533.2:p.Asp58Glu
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.944C>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23805
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp210Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

22-44131754-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131754
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131754
    reference: chr 22
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.627A>C
  hgvsp: ENSP00000262726.7:p.Arg209Ser
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.309A>C
  hgvsp: ENSP00000351219.4:p.Arg103Ser
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.941A>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.171A>C
  hgvsp: ENSP00000379533.2:p.Arg57Ser
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.309A>C
  hgvsp: ENSP00000348391.4:p.Arg103Ser
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23800
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg209Ser
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

22-44131755-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131755
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131755
    reference: chr 22
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.170G>C
  hgvsp: ENSP00000379533.2:p.Arg57Thr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.940G>C
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.626G>C
  hgvsp: ENSP00000262726.7:p.Arg209Thr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.308G>C
  hgvsp: ENSP00000351219.4:p.Arg103Thr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.308G>C
  hgvsp: ENSP00000348391.4:p.Arg103Thr
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg209Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-44131764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131764
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131764
    reference: chr 22
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.299T>C
  hgvsp: ENSP00000348391.4:p.Met100Thr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.617T>C
  hgvsp: ENSP00000262726.7:p.Met206Thr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.161T>C
  hgvsp: ENSP00000379533.2:p.Met54Thr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.299T>C
  hgvsp: ENSP00000351219.4:p.Met100Thr
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.931T>C
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23799
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met206Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

22-44131764-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131764
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131764
    reference: chr 22
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.299T>A
  hgvsp: ENSP00000351219.4:p.Met100Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.161T>A
  hgvsp: ENSP00000379533.2:p.Met54Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.617T>A
  hgvsp: ENSP00000262726.7:p.Met206Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.299T>A
  hgvsp: ENSP00000348391.4:p.Met100Lys
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.931T>A
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23799
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met206Lys
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

22-44131766-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131766
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131766
    reference: chr 22
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.297T>C
  hgvsp: ENST00000356087.4:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.297T>C
  hgvsp: ENST00000358439.4:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.615T>C
  hgvsp: ENST00000262726.7:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.159T>C
  hgvsp: ENST00000396231.2:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.929T>C
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys205Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-44131783-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131783
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131783
    reference: chr 22
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.280G>T
  hgvsp: ENSP00000348391.4:p.Val94Phe
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.912G>T
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.280G>T
  hgvsp: ENSP00000351219.4:p.Val94Phe
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.598G>T
  hgvsp: ENSP00000262726.7:p.Val200Phe
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.142G>T
  hgvsp: ENSP00000379533.2:p.Val48Phe
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6027
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val200Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

22-44131786-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44131786
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 44131786
    reference: chr 22
allele count: 8755
allele frequency: 7.212647465893363e-2
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000379533
  ensembl transcript: ENST00000396231
  gene symbol: EFCAB6
  hgvsc: ENST00000396231.2:c.139A>G
  hgvsp: ENSP00000379533.2:p.Arg47Gly
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000348391
  ensembl transcript: ENST00000356087
  gene symbol: EFCAB6
  hgvsc: ENST00000356087.4:c.277A>G
  hgvsp: ENSP00000348391.4:p.Arg93Gly
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000351219
  ensembl transcript: ENST00000358439
  gene symbol: EFCAB6
  hgvsc: ENST00000358439.4:c.277A>G
  hgvsp: ENSP00000351219.4:p.Arg93Gly
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186976
  ensembl protein: ENSP00000262726
  ensembl transcript: ENST00000262726
  gene symbol: EFCAB6
  hgvsc: ENST00000262726.7:c.595A>G
  hgvsp: ENSP00000262726.7:p.Arg199Gly
  variant of: http://identifiers.org/hgnc/24204
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186976
  ensembl transcript: ENST00000404038
  gene symbol: EFCAB6
  hgvsc: ENST00000404038.1:n.909A>G
  variant of: http://identifiers.org/hgnc/24204
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 8.25e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 9.75e1
  variant carriers: 6289
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.75e1
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.75e1
  variant carriers: 254
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 353
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.75e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.25e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 5.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 4.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.25e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Arg199Gly
num of homozygotes: 449
reference allele: T

GenotypeQuality
all individuals: 3480
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7214
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537846399901578e-5
allele num: 65026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.333722287047841e-4
allele num: 8570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.006977e6

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

FS
type: SiteQuality
SIO_000300: 1.775e0

QD
type: SiteQuality
SIO_000300: 1.044e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

GenotypeQuality
all individuals: 25219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5209
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8508
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.805182641273806e-5
allele num: 12812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53803562090498e-5
allele num: 65018
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.899e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 8.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.93e-2

DP
type: SiteQuality
SIO_000300: 2.003519e6

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545786186854634e-5
allele num: 64692
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e0

QD
type: SiteQuality
SIO_000300: 1.233e1

DP
type: SiteQuality
SIO_000300: 1.950741e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.012e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1417
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172058134083451e-4
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64494
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.674e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 1.918059e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.036e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.958e0

QD
type: SiteQuality
SIO_000300: 7.05e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1855
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variant carriers: 0

GenotypeQuality
all individuals: 5801
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585137748470342e-5
allele num: 63086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.728e0

DP
type: SiteQuality
SIO_000300: 1.820775e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.804e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQ
type: SiteQuality
SIO_000300: 3.607e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.395e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-1

FS
type: SiteQuality
SIO_000300: 1.3065e1

QD
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9062
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: 622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.367200075750402e-5
allele num: 42244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5598
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

MQ
type: SiteQuality
SIO_000300: 6.086e1

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

QD
type: SiteQuality
SIO_000300: 1.991e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

DP
type: SiteQuality
SIO_000300: 1.114741e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 33

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.640035612201865e-4
allele num: 42682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.278688524590164e-4
allele num: 9150
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 3.1985670419652e-3
allele num: 7816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6696
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.534e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

DP
type: SiteQuality
SIO_000300: 1.136599e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.341481689613187e-5
allele num: 42708
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.25e-1

MQ
type: SiteQuality
SIO_000300: 5.459e1

VQSLOD
type: SiteQuality
SIO_000300: -1.175e0

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

DP
type: SiteQuality
SIO_000300: 1.150784e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.532e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

GenotypeQuality
all individuals: 1141
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16412
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21009
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variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 3.135451505016722e-4
allele num: 9568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44886
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

DP
type: SiteQuality
SIO_000300: 1.2381e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

FS
type: SiteQuality
SIO_000300: 3.096e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
all individuals: 350
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GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 9.833916083916085e-4
allele num: 9152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45940
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.209e0

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 7.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

DP
type: SiteQuality
SIO_000300: 1.263524e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 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: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.989495463950342e-5
allele num: 50264
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.649e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 5.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.535e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.362425e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
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bin: 6.75e1
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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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50264
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.906875371507826e-5
allele num: 10094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 2.649e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.362425e6

VQSLOD
type: SiteQuality
SIO_000300: -8.535e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 5.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 349
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GenotypeQuality
all individuals: 257
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10794
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.788125448886761e-4
allele num: 8354
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
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MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

FS
type: SiteQuality
SIO_000300: 2.037e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.396e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

DP
type: SiteQuality
SIO_000300: 1.491979e6

GenotypeQuality
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GenotypeQuality
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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: 41495
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57882
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.164970772894566e-4
allele num: 9238
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.714e0

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 1.500479e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1

QD
type: SiteQuality
SIO_000300: 1.5e1

GenotypeQuality
all individuals: 221
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.25e1
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GenotypeQuality
all individuals: 2111
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607096940087426e-5
allele num: 62224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14280
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

QD
type: SiteQuality
SIO_000300: 9.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.286e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.57506e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

GenotypeQuality
all individuals: 527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
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: 2
allele frequency: 1.360914534567229e-4
allele num: 14696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.586528e6

QD
type: SiteQuality
SIO_000300: 1.714e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5600624024961e-5
allele num: 64100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.164e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.19e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.42e-1

FS
type: SiteQuality
SIO_000300: 1.0592e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

DP
type: SiteQuality
SIO_000300: 1.608407e6

VQSLOD
type: SiteQuality
SIO_000300: -5.97e-1

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 201
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variant carriers: 0

GenotypeQuality
all individuals: 4083
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545021939311538e-5
allele num: 64724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

DP
type: SiteQuality
SIO_000300: 1.620766e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.435e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 1816
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 543
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variant carriers: 0

GenotypeQuality
all individuals: 4089
bin: 9.75e1
variant carriers: 7

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.255831173639393e-5
allele num: 64824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.390593047034765e-5
allele num: 15648
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

DP
type: SiteQuality
SIO_000300: 1.622857e6

QD
type: SiteQuality
SIO_000300: 1.083e1

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
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variant carriers: 0

GenotypeQuality
all individuals: 49955
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4083
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variant carriers: 1

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.775008775008775e-5
allele num: 11396
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64910
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.76e0

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.966e0

DP
type: SiteQuality
SIO_000300: 1.623934e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1597
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4084
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 443
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.992428770671449e-4
allele num: 10038
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: 6564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15770
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e0

VQSLOD
type: SiteQuality
SIO_000300: -1.052e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.627263e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

QD
type: SiteQuality
SIO_000300: 1.524e1

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
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variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4084
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.26055716626749e-4
allele num: 15866
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65312
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

FS
type: SiteQuality
SIO_000300: 3.903e0

DP
type: SiteQuality
SIO_000300: 1.631408e6

QD
type: SiteQuality
SIO_000300: 1.156e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.725e0

GenotypeQuality
all individuals: 543
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 116
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GenotypeQuality
all individuals: 447
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GenotypeQuality
all individuals: 294
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variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65384
num of homozygotes: 0

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

African
type: Population
allele count: 45
allele frequency: 4.468718967229395e-3
allele num: 10070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.634324e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.112e0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50173
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65338
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.631961e6

QD
type: SiteQuality
SIO_000300: 8.74e0

FS
type: SiteQuality
SIO_000300: 1.708e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 102
bin: 4.75e1
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GenotypeQuality
all individuals: 4136
bin: 9.75e1
variant carriers: 65

GenotypeQuality
all individuals: 1672
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.252100840336134e-4
allele num: 11424
num of homozygotes: 0

African
type: Population
allele count: 50
allele frequency: 4.984051036682616e-3
allele num: 10032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
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: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.225039813793948e-4
allele num: 65304
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.262307498106539e-4
allele num: 15844
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.67e0

QD
type: SiteQuality
SIO_000300: 1.153e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

DP
type: SiteQuality
SIO_000300: 1.634115e6

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4083
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65084
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.00060036021613e-4
allele num: 9994
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 11394
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

FS
type: SiteQuality
SIO_000300: 3.766e0

VQSLOD
type: SiteQuality
SIO_000300: -3.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 1.626332e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.028e1

GenotypeQuality
all individuals: 2575
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4084
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64778
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.021717273275689e-4
allele num: 9946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15632
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.619424e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 1.131e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.227e0

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48278
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 1.741351288599954e-3
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.613502e6

FS
type: SiteQuality
SIO_000300: 5.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

QD
type: SiteQuality
SIO_000300: 1.087e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.187e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 9.75e1
variant carriers: 2

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.117595710188303e-5
allele num: 64152
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.264e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.392e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

DP
type: SiteQuality
SIO_000300: 1.606494e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 352
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4227
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4083
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.328288707799767e-4
allele num: 8590
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

FS
type: SiteQuality
SIO_000300: 1.713e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

QD
type: SiteQuality
SIO_000300: 1.331e1

DP
type: SiteQuality
SIO_000300: 1.597284e6

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

GenotypeQuality
all individuals: 2135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47067
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56931671950033e-5
allele num: 63722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

DP
type: SiteQuality
SIO_000300: 1.597284e6

FS
type: SiteQuality
SIO_000300: 1.713e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 4081
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.163255622686869e-5
allele num: 63226
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

FS
type: SiteQuality
SIO_000300: 6.81e-1

DP
type: SiteQuality
SIO_000300: 1.586316e6

MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

GenotypeQuality
all individuals: 558
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
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variant carriers: 0

GenotypeQuality
all individuals: 254
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GenotypeQuality
all individuals: 4080
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variant carriers: 1

GenotypeQuality
all individuals: 289
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.603386351975372e-5
allele num: 62368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

DP
type: SiteQuality
SIO_000300: 1.567208e6

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.613e1

FS
type: SiteQuality
SIO_000300: 3.527e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 124
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GenotypeQuality
all individuals: 346
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GenotypeQuality
all individuals: 7270
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variant carriers: 0

GenotypeQuality
all individuals: 466
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GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.509592887225082e-4
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.625751910258495e-5
allele num: 61510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.834e0

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.46e-1

DP
type: SiteQuality
SIO_000300: 1.549153e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
all individuals: 1898
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 228
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variant carriers: 0

GenotypeQuality
all individuals: 355
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variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.638753236537642e-5
allele num: 61022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.444e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.519e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

DP
type: SiteQuality
SIO_000300: 1.536371e6

QD
type: SiteQuality
SIO_000300: 7.62e0

VQSLOD
type: SiteQuality
SIO_000300: -3.257e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1864
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GenotypeQuality
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GenotypeQuality
all individuals: 351
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variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.062896501721951e-5
allele num: 11034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14062
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

DP
type: SiteQuality
SIO_000300: 1.521625e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.513e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 185
bin: 4.25e1
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GenotypeQuality
all individuals: 289
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GenotypeQuality
all individuals: 338
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variant carriers: 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: 10960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.690274162469152e-5
allele num: 59162
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

MQ
type: SiteQuality
SIO_000300: 5.873e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

InbreedingCoeff
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SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.111e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e0

FS
type: SiteQuality
SIO_000300: 1.628e0

VQSLOD
type: SiteQuality
SIO_000300: -6.627999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

DP
type: SiteQuality
SIO_000300: 1.492787e6

GenotypeQuality
all individuals: 344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.1441111923921e-5
allele num: 10936
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.701837985023826e-5
allele num: 58760
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.832e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.894e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.484151e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.767971429581698e-5
allele num: 56562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12898
num of homozygotes: 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: 8236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.42649e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

QD
type: SiteQuality
SIO_000300: 6.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

FS
type: SiteQuality
SIO_000300: 2.76e0

GenotypeQuality
all individuals: 1920
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variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31231
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.786224635610174e-5
allele num: 55984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.406452e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

FS
type: SiteQuality
SIO_000300: 9.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.375e1

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

GenotypeQuality
all individuals: 437
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1535
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.815738824127537e-5
allele num: 55074
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 7.074e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.567e1

DP
type: SiteQuality
SIO_000300: 1.377984e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 341
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53494
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.252186829509821e-5
allele num: 12118
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.579e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.465e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

DP
type: SiteQuality
SIO_000300: 1.325216e6

QD
type: SiteQuality
SIO_000300: 1.855e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1150
bin: 6.75e1
variant carriers: 0

African
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: 5934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.0e-5
allele num: 50000
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.495e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.202112e6

QD
type: SiteQuality
SIO_000300: 3.082e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10006
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 386
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7316
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.243852837862822e-5
allele num: 10818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.064580064414898e-5
allele num: 48436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.163099e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9462
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 1.215362177929023e-4
allele num: 8228
num of homozygotes: 0

FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 146
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GenotypeQuality
all individuals: 576
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GenotypeQuality
all individuals: 190
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5568
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.12630236019562e-4
allele num: 9406
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African
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.786521156423511e-5
allele num: 41784
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.27e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

DP
type: SiteQuality
SIO_000300: 1.082292e6

GenotypeQuality
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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: 6614
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 1.282873636946761e-4
allele num: 15590
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66414
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African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
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Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
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East Asian
type: Population
allele count: 17
allele frequency: 1.964409521608505e-3
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.72e-1

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

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

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
all individuals: 3188
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505842669557885e-5
allele num: 66408
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15560
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 3.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

DP
type: SiteQuality
SIO_000300: 2.846086e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: -6.652e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15574
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.63e-1

DP
type: SiteQuality
SIO_000300: 2.848659e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

QD
type: SiteQuality
SIO_000300: 1.231e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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: 10396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.515352197471403e-5
allele num: 66440
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.767e0

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 2.855862e6

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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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.371861858034918e-5
allele num: 15694
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-1

FS
type: SiteQuality
SIO_000300: 4.896e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.389e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.85e-1

DP
type: SiteQuality
SIO_000300: 2.861047e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.24e-1

DP
type: SiteQuality
SIO_000300: 2.863822e6

FS
type: SiteQuality
SIO_000300: 2.029e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.355e1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 60
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.341958396752917e-5
allele num: 15768
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.151e0

MQRankSum
type: SiteQuality
SIO_000300: -1.377e0

FS
type: SiteQuality
SIO_000300: 2.359e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.242e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.86491e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.48e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005620510354363e-5
allele num: 66542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15918
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.013e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.165e0

QD
type: SiteQuality
SIO_000300: 1.016e1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.87215e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2510
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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: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

FS
type: SiteQuality
SIO_000300: 2.917e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 2.872941e6

QD
type: SiteQuality
SIO_000300: 6.37e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.223549912870301e-5
allele num: 16068
num of homozygotes: 0

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.223549912870301e-5
allele num: 16068
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

Other
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

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

African
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

South Asian
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allele frequency: 6.194251734390486e-5
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num of homozygotes: 0

InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3892
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
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: 16310
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.884071e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.525e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

FS
type: SiteQuality
SIO_000300: 5.118e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.62e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.199e1

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

GenotypeQuality
all individuals: 23799
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

DP
type: SiteQuality
SIO_000300: 2.886628e6

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.26e-1

FS
type: SiteQuality
SIO_000300: 6.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.363e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

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

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

GenotypeQuality
all individuals: 4211
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1848
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

DP
type: SiteQuality
SIO_000300: 2.887599e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23804
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3914
bin: 8.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212709192335678e-4
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.803e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 2.887959e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.183e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

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

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1848
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 2.887959e6

QD
type: SiteQuality
SIO_000300: 1.183e1

FS
type: SiteQuality
SIO_000300: 1.803e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

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

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15045
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498560460652591e-5
allele num: 66688
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 1.091e0

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
SIO_000300: 2.88853e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.28e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

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

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

GenotypeQuality
all individuals: 3917
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2554
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3219
bin: 9.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997541008186643e-5
allele num: 66694
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

DP
type: SiteQuality
SIO_000300: 2.888528e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

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

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4211
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 2.888528e6

FS
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeQuality
all individuals: 2557
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1849
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6024
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15079
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.268e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 2.888067e6

FS
type: SiteQuality
SIO_000300: 3.079e0

MQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4213
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6025
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3919
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23800
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.888004e6

VQSLOD
type: SiteQuality
SIO_000300: -2.821e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

MQRankSum
type: SiteQuality
SIO_000300: -1.832e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

FS
type: SiteQuality
SIO_000300: 1.5643e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
all individuals: 4215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15091
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6027
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1849
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.88834e6

QD
type: SiteQuality
SIO_000300: 1.19e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

GenotypeQuality
all individuals: 3920
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3220
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1849
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2558
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

DP
type: SiteQuality
SIO_000300: 2.88834e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 1849
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15090
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23797
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6029
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 1.4185e1

QD
type: SiteQuality
SIO_000300: 1.397e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.365e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.14e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 2.888102e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.138e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

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

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

GenotypeQuality
all individuals: 1849
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3920
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23797
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.888193e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

FS
type: SiteQuality
SIO_000300: 5.606e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.169e0

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.76e-1

QD
type: SiteQuality
SIO_000300: 1.118e1

VQSLOD
type: SiteQuality
SIO_000300: 6.71e-1