13-77900578-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900578
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900578
    reference: chr 13
allele count: 1
allele frequency: 1.067486496295822e-5
allele num: 93678
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.188+31C>G
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7424+31C>G
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.188+31C>G
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.577+31C>G
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.302+31C>G
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19426
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10160
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

13-77900579-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900579
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900579
    reference: chr 13
allele count: 1
allele frequency: 1.062428286090689e-5
allele num: 94124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.302+30C>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.188+30C>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.188+30C>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7424+30C>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.577+30C>A
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4847
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

13-77900584-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900584
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900584
    reference: chr 13
allele count: 1
allele frequency: 1.050662968333018e-5
allele num: 95178
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.188+25T>C
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.188+25T>C
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7424+25T>C
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.302+25T>C
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.577+25T>C
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

13-77900586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900586
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900586
    reference: chr 13
allele count: 382
allele frequency: 3.999078746257407e-3
allele num: 95522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.302+23C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.577+23C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.188+23C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7424+23C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.188+23C>T
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10087
  bin: 2.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 9482
  bin: 7.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 9519
  bin: 1.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 22603
  bin: 2.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 1.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3962
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10246
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.25e1
  variant carriers: 2
num of homozygotes: 6
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

13-77900592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900592
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900592
    reference: chr 13
allele count: 1
allele frequency: 1.036656161884226e-5
allele num: 96464
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.188+17C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.188+17C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.302+17C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7424+17C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.577+17C>T
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9986
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

13-77900603-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900603
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900603
    reference: chr 13
allele count: 1
allele frequency: 1.010284698227961e-5
allele num: 98982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.577+6T>C
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7424+6T>C
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.188+6T>C
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.302+6T>C
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.188+6T>C
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
hgvs: c.188+6T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

13-77900608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900608
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900608
    reference: chr 13
allele count: 1
allele frequency: 9.968698287377635e-6
allele num: 100314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7424+1G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.188+1G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.188+1G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.577+1G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.302+1G>A
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
hgvs: c.188+1G>A
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

13-77900625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900625
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900625
    reference: chr 13
allele count: 1
allele frequency: 9.666131807373325e-6
allele num: 103454
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.172G>A
  hgvsp: ENSP00000444596.1:p.Gly58Arg
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.172G>A
  hgvsp: ENSP00000349892.5:p.Gly58Arg
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.561G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7440G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.286G>A
  hgvsp: ENSP00000384288.2:p.Gly96Arg
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly58Arg
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

13-77900634-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900634
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900634
    reference: chr 13
allele count: 1
allele frequency: 9.480290476100188e-6
allele num: 105482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.277G>A
  hgvsp: ENSP00000384288.2:p.Gly93Ser
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.163G>A
  hgvsp: ENSP00000349892.5:p.Gly55Ser
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7449G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.163G>A
  hgvsp: ENSP00000444596.1:p.Gly55Ser
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.552G>A
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15176
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly55Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

13-77900635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900635
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900635
    reference: chr 13
allele count: 3
allele frequency: 2.838382500425757e-5
allele num: 105694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.276C>T
  hgvsp: ENST00000407578.2:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7450C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.162C>T
  hgvsp: ENST00000357337.6:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.551C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.162C>T
  hgvsp: ENST00000544440.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6987
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly54Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

13-77900636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900636
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900636
    reference: chr 13
allele count: 1
allele frequency: 9.440909348388437e-6
allele num: 105922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7451G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.161G>A
  hgvsp: ENSP00000349892.5:p.Gly54Asp
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.161G>A
  hgvsp: ENSP00000444596.1:p.Gly54Asp
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.550G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.275G>A
  hgvsp: ENSP00000384288.2:p.Gly92Asp
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
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genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
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genotype quality: GenotypeQuality
  all individuals: 280
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly54Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

13-77900637-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900637
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900637
    reference: chr 13
allele count: 1
allele frequency: 9.409639234431752e-6
allele num: 106274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7452G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.160G>A
  hgvsp: ENSP00000444596.1:p.Gly54Ser
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.274G>A
  hgvsp: ENSP00000384288.2:p.Gly92Ser
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.549G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.160G>A
  hgvsp: ENSP00000349892.5:p.Gly54Ser
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 323
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43545
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly54Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/13-77900641-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900641
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900641
    reference: chr 13
allele count: 9
allele frequency: 8.399283261161715e-5
allele num: 107152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.545G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.156G>T
  hgvsp: ENSP00000444596.1:p.Gln52His
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.270G>T
  hgvsp: ENSP00000384288.2:p.Gln90His
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.156G>T
  hgvsp: ENSP00000349892.5:p.Gln52His
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7456G>T
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15772
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln52His
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

13-77900643-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900643
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900643
    reference: chr 13
allele count: 4
allele frequency: 3.719546215361726e-5
allele num: 107540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.154C>G
  hgvsp: ENSP00000349892.5:p.Gln52Glu
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.543C>G
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.268C>G
  hgvsp: ENSP00000384288.2:p.Gln90Glu
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7458C>G
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.154C>G
  hgvsp: ENSP00000444596.1:p.Gln52Glu
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32675
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15898
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6467
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 45121
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genotype quality: GenotypeQuality
  all individuals: 1013
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genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln52Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/13-77900664-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900664
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900664
    reference: chr 13
allele count: 1
allele frequency: 9.177342975661686e-6
allele num: 108964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.133G>T
  hgvsp: ENSP00000349892.5:p.Ala45Ser
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.247G>T
  hgvsp: ENSP00000384288.2:p.Ala83Ser
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.522G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7479G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.133G>T
  hgvsp: ENSP00000444596.1:p.Ala45Ser
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala45Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

13-77900665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900665
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900665
    reference: chr 13
allele count: 1
allele frequency: 9.172292339301438e-6
allele num: 109024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.132C>T
  hgvsp: ENST00000357337.6:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.132C>T
  hgvsp: ENST00000544440.2:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.521C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7480C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.246C>T
  hgvsp: ENST00000407578.2:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
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genotype depth: GenotypeDepth
  all individuals: 32879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr44Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

13-77900666-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900666
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900666
    reference: chr 13
allele count: 1
allele frequency: 9.175827200822154e-6
allele num: 108982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.131C>G
  hgvsp: ENSP00000349892.5:p.Thr44Ser
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.520C>G
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.131C>G
  hgvsp: ENSP00000444596.1:p.Thr44Ser
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.245C>G
  hgvsp: ENSP00000384288.2:p.Thr82Ser
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7481C>G
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr44Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

13-77900675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900675
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900675
    reference: chr 13
allele count: 1
allele frequency: 9.242485858996636e-6
allele num: 108196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.511G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.122G>A
  hgvsp: ENSP00000349892.5:p.Arg41Lys
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.122G>A
  hgvsp: ENSP00000444596.1:p.Arg41Lys
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7490G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.236G>A
  hgvsp: ENSP00000384288.2:p.Arg79Lys
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg41Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/13-77900698-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900698
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900698
    reference: chr 13
allele count: 2
allele frequency: 1.955722443870766e-5
allele num: 102264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7513G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.99G>T
  hgvsp: ENST00000544440.2:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.99G>T
  hgvsp: ENST00000357337.6:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.213G>T
  hgvsp: ENST00000407578.2:c.213G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.488G>T
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
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genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 90
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg33Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

13-77900699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900699
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900699
    reference: chr 13
allele count: 1
allele frequency: 9.852022620243936e-6
allele num: 101502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7514G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.212G>A
  hgvsp: ENSP00000384288.2:p.Arg71Gln
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.98G>A
  hgvsp: ENSP00000444596.1:p.Arg33Gln
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.98G>A
  hgvsp: ENSP00000349892.5:p.Arg33Gln
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.487G>A
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 1874
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24970
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15390
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg33Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

13-77900704-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900704
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900704
    reference: chr 13
allele count: 1
allele frequency: 1.016177546540932e-5
allele num: 98408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.93A>G
  hgvsp: ENST00000544440.2:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.93A>G
  hgvsp: ENST00000357337.6:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.207A>G
  hgvsp: ENST00000407578.2:c.207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7519A>G
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.482A>G
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15035
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser31Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

13-77900706-ACAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900706
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900703
    reference: chr 13
allele count: 1
allele frequency: 1.030906579245789e-5
allele num: 97002
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.88_90delCTG
  hgvsp: ENSP00000444596.1:p.Leu30del
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.88_90delCTG
  hgvsp: ENSP00000349892.5:p.Leu30del
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.202_204delCTG
  hgvsp: ENSP00000384288.2:p.Leu68del
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7524_-7522delCTG
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.477_479delCTG
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu30del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: ACAG
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

13-77900710-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900710
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900710
    reference: chr 13
allele count: 5
allele frequency: 5.326288429171016e-5
allele num: 93874
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7525G>C
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.87G>C
  hgvsp: ENST00000357337.6:c.87G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.87G>C
  hgvsp: ENST00000544440.2:c.87G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.476G>C
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.201G>C
  hgvsp: ENST00000407578.2:c.201G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12820
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10663
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu29Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/13-77900726-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900726
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900726
    reference: chr 13
allele count: 1
allele frequency: 1.331203407880724e-5
allele num: 75120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.185G>T
  hgvsp: ENSP00000384288.2:p.Gly62Val
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7541G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.71G>T
  hgvsp: ENSP00000349892.5:p.Gly24Val
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.460G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.71G>T
  hgvsp: ENSP00000444596.1:p.Gly24Val
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly24Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

13-77900746-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900746
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900746
    reference: chr 13
allele count: 1
allele frequency: 1.771416424573089e-5
allele num: 56452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.51A>T
  hgvsp: ENST00000357337.6:c.51A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.165A>T
  hgvsp: ENST00000407578.2:c.165A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.51A>T
  hgvsp: ENST00000544440.2:c.51A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.440A>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7561A>T
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18286
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32045
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8394
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu17Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

13-77900746-T-TAGCCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900746
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900752
    reference: chr 13
allele count: 1
allele frequency: 1.771416424573089e-5
allele num: 56452
alternate allele: TAGCCCC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.159_164dupGGGGCT
  hgvsp: ENSP00000384288.2:p.Gly54_Leu55dup
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.45_50dupGGGGCT
  hgvsp: ENSP00000349892.5:p.Gly16_Leu17dup
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.45_50dupGGGGCT
  hgvsp: ENSP00000444596.1:p.Gly16_Leu17dup
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.434_439dupGGGGCT
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8394
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly16_Leu17dup
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/13-77900755-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900755
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900755
    reference: chr 13
allele count: 1
allele frequency: 2.073484282989135e-5
allele num: 48228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.156G>T
  hgvsp: ENST00000407578.2:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.431G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.42G>T
  hgvsp: ENST00000357337.6:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.42G>T
  hgvsp: ENST00000544440.2:c.42G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7570G>T
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16606
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 9870
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 33736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly14Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

13-77900757-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900757
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900757
    reference: chr 13
allele count: 1
allele frequency: 2.124134415225796e-5
allele num: 47078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7572G>C
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.40G>C
  hgvsp: ENSP00000349892.5:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.429G>C
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.154G>C
  hgvsp: ENSP00000384288.2:p.Gly52Arg
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.40G>C
  hgvsp: ENSP00000444596.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10112
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly14Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

13-77900758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900758
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900758
    reference: chr 13
allele count: 6
allele frequency: 1.322867977775818e-4
allele num: 45356
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.39G>A
  hgvsp: ENST00000544440.2:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7573G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.153G>A
  hgvsp: ENST00000407578.2:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.39G>A
  hgvsp: ENST00000357337.6:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.428G>A
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16183
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24666
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 323
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu13Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

13-77900762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900762
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900762
    reference: chr 13
allele count: 1
allele frequency: 2.322988292139008e-5
allele num: 43048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.424G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.149G>A
  hgvsp: ENSP00000384288.2:p.Gly50Glu
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.35G>A
  hgvsp: ENSP00000349892.5:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.35G>A
  hgvsp: ENSP00000444596.1:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7577G>A
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15849
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 33154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11111
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly12Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

13-77900776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900776
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900776
    reference: chr 13
allele count: 1
allele frequency: 3.094825451844516e-5
allele num: 32312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.21C>T
  hgvsp: ENST00000544440.2:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.21C>T
  hgvsp: ENST00000357337.6:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7591C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.135C>T
  hgvsp: ENST00000407578.2:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.410C>T
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 17214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 886
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 104
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genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Ser7Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

13-77900792-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900792
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900792
    reference: chr 13
allele count: 1
allele frequency: 4.314063848144952e-5
allele num: 23180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.394C>G
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.5C>G
  hgvsp: ENSP00000349892.5:p.Pro2Arg
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.119C>G
  hgvsp: ENSP00000384288.2:p.Pro40Arg
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7607C>G
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.5C>G
  hgvsp: ENSP00000444596.1:p.Pro2Arg
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10126
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20951
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24902
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro2Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

13-77900796-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900796
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900796
    reference: chr 13
allele count: 1
allele frequency: 4.838865769863544e-5
allele num: 20666
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.1A>T
  hgvsp: ENSP00000444596.1:p.Met1?
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7611A>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.1A>T
  hgvsp: ENSP00000349892.5:p.Met1?
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.390A>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.115A>T
  hgvsp: ENSP00000384288.2:p.Met39Leu
  variant of: http://identifiers.org/hgnc/23386
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27435
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

13-77900803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900803
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900803
    reference: chr 13
allele count: 1
allele frequency: 7.95291872117067e-5
allele num: 12574
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000444596
  ensembl transcript: ENST00000544440
  gene symbol: MYCBP2
  hgvsc: ENST00000544440.2:c.-7G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.383G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7618G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.108G>A
  hgvsp: ENST00000407578.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-7G>A
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30945
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31594
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 54
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genotype quality: GenotypeQuality
  all individuals: 1902
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 573
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13403
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala36Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/13-77900815-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900815
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900815
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 7940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.371G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-1G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-1G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.96G>T
  hgvsp: ENST00000407578.2:c.96G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: splice acceptor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11373
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34416
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34418
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8861
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
hgvs: c.-7629-1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

13-77900831-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900831
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900831
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 4678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-17C>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.355C>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.80C>A
  hgvsp: ENSP00000384288.2:p.Thr27Asn
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-17C>A
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30501
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3986
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr27Asn
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/13-77900835-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900835
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900835
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 4150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-21G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.76G>T
  hgvsp: ENSP00000384288.2:p.Ala26Ser
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.351G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-21G>T
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 792
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3373
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3062
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala26Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

13-77900841-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900841
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900841
    reference: chr 13
allele count: 1
allele frequency: 2.564102564102564e-4
allele num: 3900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.70C>A
  hgvsp: ENSP00000384288.2:p.Pro24Thr
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.345C>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-27C>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-27C>A
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25891
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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genotype depth: GenotypeDepth
  all individuals: 4463
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 961
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 34
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 321
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
hgvs: p.Pro24Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

13-77900848-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900848
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900848
    reference: chr 13
allele count: 193
allele frequency: 5.433558558558559e-2
allele num: 3552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.338A>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.63A>T
  hgvsp: ENST00000407578.2:c.63A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-34A>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-34A>T
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21533
  bin: 2.5e0
  variant carriers: 159
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 7.5e0
  variant carriers: 302
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 142
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.25e1
  variant carriers: 19
hgvs: p.Gly21Gly
num of homozygotes: 6
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

13-77900866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900866
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900866
    reference: chr 13
allele count: 1
allele frequency: 2.522704339051463e-4
allele num: 3964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-52G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-52G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.320G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.45G>A
  hgvsp: ENST00000407578.2:c.45G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser15Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

13-77900872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900872
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900872
    reference: chr 13
allele count: 1
allele frequency: 2.530364372469636e-4
allele num: 3952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.314C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.39C>T
  hgvsp: ENST00000407578.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-58C>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-58C>T
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala13Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/13-77900909-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900909
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900909
    reference: chr 13
allele count: 5
allele frequency: 1.085540599218411e-3
allele num: 4606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-95T>G
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.277T>G
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.2T>G
  hgvsp: ENSP00000384288.2:p.Met1?
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-95T>G
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

13-77900913-T-TCGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900913
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900916
    reference: chr 13
allele count: 7
allele frequency: 1.724137931034483e-3
allele num: 4060
alternate allele: TCGC
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.-6_-4dupGCG
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-102_-7629-100dupGCG
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-102_-18-100dupGCG
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.270_272dupGCG
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

13-77900913-T-TCGCCGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900913
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900919
    reference: chr 13
allele count: 2
allele frequency: 4.926108374384236e-4
allele num: 4060
alternate allele: TCGCCGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-105_-18-100dupGCGGCG
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.267_272dupGCGGCG
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-105_-7629-100dupGCGGCG
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.-9_-4dupGCGGCG
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

13-77900913-TCGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900913
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900910
    reference: chr 13
allele count: 28
allele frequency: 6.896551724137931e-3
allele num: 4060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-102_-7629-100delGCG
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.-6_-4delGCG
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.270_272delGCG
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-102_-18-100delGCG
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: TCGC
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

13-77900913-TCGCCGCCGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900913
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900904
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 4060
alternate allele: T
canonical: false
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 72
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 56
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 38
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: TCGCCGCCGC
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

13-77900913-TCGCCGCCGCCGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900913
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900901
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 4060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 77
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genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: TCGCCGCCGCCGC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/13-77900940-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900940
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900940
    reference: chr 13
allele count: 2
allele frequency: 4.528985507246377e-4
allele num: 4416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.246G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-126G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-126G>T
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.-30G>T
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 633
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3528
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
  all individuals: 2044
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genotype quality: GenotypeQuality
  all individuals: 164
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

13-77900946-CGCGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900946
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900941
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 4110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-137_-18-133delCCCGC
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.235_239delCCCGC
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.-41_-37delCCCGC
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-137_-7629-133delCCCGC
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: CGCGGG
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

13-77900948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900948
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900948
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 3456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-134G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.238G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.-38G>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-134G>A
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

13-77900950-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77900950
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 77900950
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 3478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005810
  ensembl transcript: ENST00000491491
  gene symbol: MYCBP2
  hgvsc: ENST00000491491.1:n.236C>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000349892
  ensembl transcript: ENST00000357337
  gene symbol: MYCBP2
  hgvsc: ENST00000357337.6:c.-18-136C>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000353197
  ensembl transcript: ENST00000360084
  gene symbol: MYCBP2
  hgvsc: ENST00000360084.5:c.-7629-136C>A
  variant of: http://identifiers.org/hgnc/23386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005810
  ensembl protein: ENSP00000384288
  ensembl transcript: ENST00000407578
  gene symbol: MYCBP2
  hgvsc: ENST00000407578.2:c.-40C>A
  variant of: http://identifiers.org/hgnc/23386
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 285
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 240
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

13-78129964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78129964
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78129964
    reference: chr 13
allele count: 3
allele frequency: 2.477536997885835e-5
allele num: 121088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.-19-28C>T
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.-19-28C>T
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.-19-28C>T
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.-19-28C>T
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13187
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum

13-78129970-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78129970
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78129970
    reference: chr 13
allele count: 32
allele frequency: 2.642269709680615e-4
allele num: 121108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.-19-22C>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.-19-22C>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.-19-22C>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.-19-22C>G
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14219
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13193
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20167
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

13-78129979-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78129979
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78129979
    reference: chr 13
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.-19-13A>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.-19-13A>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.-19-13A>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.-19-13A>G
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13169
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

13-78130024-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130024
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130024
    reference: chr 13
allele count: 2
allele frequency: 1.649620587264929e-5
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.14C>G
  hgvsp: ENSP00000437895.1:p.Thr5Ser
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.14C>G
  hgvsp: ENSP00000366454.3:p.Thr5Ser
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.14C>G
  hgvsp: ENSP00000432840.1:p.Thr5Ser
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.14C>G
  hgvsp: ENSP00000302579.5:p.Thr5Ser
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13164
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr5Ser
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

13-78130042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130042
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130042
    reference: chr 13
allele count: 12
allele frequency: 9.900826719031039e-5
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.32C>T
  hgvsp: ENSP00000432840.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.32C>T
  hgvsp: ENSP00000437895.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.32C>T
  hgvsp: ENSP00000302579.5:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.32C>T
  hgvsp: ENSP00000366454.3:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13166
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5037
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro11Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

13-78130048-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130048
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130048
    reference: chr 13
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.38G>C
  hgvsp: ENSP00000366454.3:p.Gly13Ala
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.38G>C
  hgvsp: ENSP00000432840.1:p.Gly13Ala
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.38G>C
  hgvsp: ENSP00000302579.5:p.Gly13Ala
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.38G>C
  hgvsp: ENSP00000437895.1:p.Gly13Ala
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly13Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

13-78130052-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130052
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130052
    reference: chr 13
allele count: 2
allele frequency: 1.650791554550407e-5
allele num: 121154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.42T>G
  hgvsp: ENSP00000432840.1:p.Asn14Lys
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.42T>G
  hgvsp: ENSP00000437895.1:p.Asn14Lys
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.42T>G
  hgvsp: ENSP00000366454.3:p.Asn14Lys
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.42T>G
  hgvsp: ENSP00000302579.5:p.Asn14Lys
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn14Lys
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

13-78130054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130054
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130054
    reference: chr 13
allele count: 2
allele frequency: 1.650982334489021e-5
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.43+1G>A
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.43+1G>A
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.43+1G>A
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.43+1G>A
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13156
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: c.43+1G>A
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

13-78130058-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130058
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130058
    reference: chr 13
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.43+5T>C
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.43+5T>C
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.43+5T>C
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.43+5T>C
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8418
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
hgvs: c.43+5T>C
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/13-78130063-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130063
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130063
    reference: chr 13
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.43+10A>C
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.43+10A>C
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.43+10A>C
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.43+10A>C
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8412
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

13-78130068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130068
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130068
    reference: chr 13
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.43+15G>A
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.43+15G>A
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.43+15G>A
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.43+15G>A
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 5018
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

13-78130074-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130074
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130074
    reference: chr 13
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.43+21C>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.43+21C>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.43+21C>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.43+21C>G
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4199
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 172
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genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 20421
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genotype quality: GenotypeQuality
  all individuals: 5008
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/13-78130076-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130076
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130076
    reference: chr 13
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.43+23C>A
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.43+23C>A
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.43+23C>A
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.43+23C>A
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14185
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5003
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

13-78130078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130078
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130078
    reference: chr 13
allele count: 2
allele frequency: 1.655656550605143e-5
allele num: 120798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.43+25C>T
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.43+25C>T
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.43+25C>T
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.43+25C>T
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15124
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13148
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

13-78130080-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130080
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130080
    reference: chr 13
allele count: 5
allele frequency: 4.140718166158738e-5
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.43+27C>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.43+27C>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.43+27C>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.43+27C>G
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13147
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

13-78130083-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130083
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130083
    reference: chr 13
allele count: 7
allele frequency: 5.798542080848244e-5
allele num: 120720
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.43+30A>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.43+30A>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.43+30A>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.43+30A>G
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13140
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

13-78130087-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130087
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130086
    reference: chr 13
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.43+37delT
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.43+37delT
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.43+37delT
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.43+37delT
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
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genotype quality: GenotypeQuality
  all individuals: 13137
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4187
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: CT
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/13-78130093-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130093
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130093
    reference: chr 13
allele count: 2
allele frequency: 1.659062629614268e-5
allele num: 120550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.43+40A>C
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.43+40A>C
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.43+40A>C
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.43+40A>C
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6719
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

13-78130102-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130102
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130102
    reference: chr 13
allele count: 93
allele frequency: 7.747030305049731e-4
allele num: 120046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.43+49A>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.43+49A>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.43+49A>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.43+49A>G
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11231
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10896
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13192
  bin: 9.75e1
  variant carriers: 92
num of homozygotes: 1
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

13-78130680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130680
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130680
    reference: chr 13
allele count: 26
allele frequency: 2.146099876186546e-4
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.44-51G>A
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.44-51G>A
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.44-51G>A
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.44-51G>A
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46633
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

13-78130685-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130685
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130685
    reference: chr 13
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.44-46A>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.44-46A>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.44-46A>G
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.44-46A>G
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46624
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

13-78130691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130691
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130691
    reference: chr 13
allele count: 2
allele frequency: 1.649947201689546e-5
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.44-40C>T
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.44-40C>T
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.44-40C>T
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.44-40C>T
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46624
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

13-78130694-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130694
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130694
    reference: chr 13
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.44-37T>C
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.44-37T>C
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.44-37T>C
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.44-37T>C
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46624
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

13-78130699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78130699
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 78130699
    reference: chr 13
allele count: 2
allele frequency: 1.649212501030758e-5
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000432840
  ensembl transcript: ENST00000471491
  gene symbol: SCEL
  hgvsc: ENST00000471491.1:c.44-32C>T
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000302579
  ensembl transcript: ENST00000349847
  gene symbol: SCEL
  hgvsc: ENST00000349847.3:c.44-32C>T
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000366454
  ensembl transcript: ENST00000377246
  gene symbol: SCEL
  hgvsc: ENST00000377246.3:c.44-32C>T
  variant of: http://identifiers.org/hgnc/10573
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136155
  ensembl protein: ENSP00000437895
  ensembl transcript: ENST00000535157
  gene symbol: SCEL
  hgvsc: ENST00000535157.1:c.44-32C>T
  variant of: http://identifiers.org/hgnc/10573
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.873782041672913e-5
allele num: 53368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7616
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

QD
type: SiteQuality
SIO_000300: 1.494e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.294e0

DP
type: SiteQuality
SIO_000300: 1.02976e6

VQSLOD
type: SiteQuality
SIO_000300: -7.91e-2

FS
type: SiteQuality
SIO_000300: 1.666e0

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 380
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7640
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.866437716973385e-5
allele num: 53578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.148e0

QD
type: SiteQuality
SIO_000300: 6.31e0

VQSLOD
type: SiteQuality
SIO_000300: -1.322e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.698e0

DP
type: SiteQuality
SIO_000300: 1.032787e6

GenotypeQuality
all individuals: 2887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28022
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.299376299376299e-4
allele num: 7696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4822
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.066212e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.436e0

GenotypeQuality
all individuals: 376
bin: 9.75e1
variant carriers: 372

GenotypeQuality
all individuals: 1006
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 321
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1020
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 29158
bin: 6.25e1
variant carriers: 1

Latino
type: Population
allele count: 13
allele frequency: 1.2663159945451e-3
allele num: 10266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.683648285261724e-5
allele num: 54294
num of homozygotes: 0

African
type: Population
allele count: 367
allele frequency: 4.889421795896616e-2
allele num: 7506
num of homozygotes: 6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7714
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

DP
type: SiteQuality
SIO_000300: 1.081135e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

FS
type: SiteQuality
SIO_000300: 1.522e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.357e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 927
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.825150574922431e-5
allele num: 54790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.135e-1

QD
type: SiteQuality
SIO_000300: 8.82e0

MQ
type: SiteQuality
SIO_000300: 5.387e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.266e0

DP
type: SiteQuality
SIO_000300: 1.107049e6

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.755e0

GenotypeQuality
all individuals: 1966
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.784248652892267e-5
allele num: 56046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.83e0

MQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.116000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e0

DP
type: SiteQuality
SIO_000300: 1.164564e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 38169
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9074
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5106
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.764415272778601e-5
allele num: 56676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 1.198e0

QD
type: SiteQuality
SIO_000300: 1.292e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.137e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.706e0

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.192411e6

GenotypeQuality
all individuals: 40969
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1200
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GenotypeQuality
all individuals: 587
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.723900151703213e-5
allele num: 58008
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12426
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5276
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.046e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.28e-1

QD
type: SiteQuality
SIO_000300: 1.503e1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 2.169e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

DP
type: SiteQuality
SIO_000300: 1.247021e6

GenotypeQuality
all individuals: 412
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.227897838899803e-4
allele num: 8144
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.831e1

MQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.488e0

QD
type: SiteQuality
SIO_000300: 1.666e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeQuality
all individuals: 516
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 618
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.097532794127642e-5
allele num: 58852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-2

FS
type: SiteQuality
SIO_000300: 1.931e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.037e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

DP
type: SiteQuality
SIO_000300: 1.283035e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQ
type: SiteQuality
SIO_000300: 5.908e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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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: 759
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.139097057210747e-5
allele num: 10942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 1.285899e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

FS
type: SiteQuality
SIO_000300: 4.947e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.08e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 493
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.693422746054325e-5
allele num: 59052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.288831e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-1

QD
type: SiteQuality
SIO_000300: 6.91e0

FS
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: -8.304e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 441
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.515355603448276e-4
allele num: 59392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14046
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 2.445e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.17e1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

DP
type: SiteQuality
SIO_000300: 1.299666e6

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5456
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.113569113710018e-4
allele num: 14194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.09090909090909e-5
allele num: 11000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59534
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.304784e6

QD
type: SiteQuality
SIO_000300: 1.027e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
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allele num: 14930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.665057111458923e-5
allele num: 60058
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5474
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.722e0

QD
type: SiteQuality
SIO_000300: 3.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.322492e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.83e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14972
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.664447403462051e-5
allele num: 60080
num of homozygotes: 0

Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
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African
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allele count: 0
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allele num: 8496
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

FS
type: SiteQuality
SIO_000300: 7.68e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.885e1

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.323527e6

QD
type: SiteQuality
SIO_000300: 1.172e1

GenotypeQuality
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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: 409
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8498
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60056
num of homozygotes: 0

East Asian
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allele frequency: 1.216249087813184e-4
allele num: 8222
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5460
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14974
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
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DP
type: SiteQuality
SIO_000300: 1.323426e6

FS
type: SiteQuality
SIO_000300: 1.374e0

VQSLOD
type: SiteQuality
SIO_000300: -1.243e-1

ReadPosRankSum
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
bin: 9.25e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59626
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.194743130227001e-4
allele num: 8370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14958
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.556e0

QD
type: SiteQuality
SIO_000300: 1.192e1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: -1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

FS
type: SiteQuality
SIO_000300: 1.194e0

MQ
type: SiteQuality
SIO_000300: 5.697e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

DP
type: SiteQuality
SIO_000300: 1.309005e6

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14400
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.920122887864823e-4
allele num: 10416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.383e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.326e-1

FS
type: SiteQuality
SIO_000300: 6.913e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

DP
type: SiteQuality
SIO_000300: 1.215638e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.290655653071761e-4
allele num: 7748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4784
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14338
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

DP
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FS
type: SiteQuality
SIO_000300: 9.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.006e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7384
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.119464616260858e-5
allele num: 14046
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4544
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54216
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.696e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.443e0

MQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.155316e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.013376570733685e-4
allele num: 9868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13916
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

QD
type: SiteQuality
SIO_000300: 2.909e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

FS
type: SiteQuality
SIO_000300: 3.499e0

VQSLOD
type: SiteQuality
SIO_000300: -6.222e-1

DP
type: SiteQuality
SIO_000300: 1.132826e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.751337105650724e-5
allele num: 51604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4224
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7236
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.415227851684121e-4
allele num: 7066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.914e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

DP
type: SiteQuality
SIO_000300: 1.082638e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

QD
type: SiteQuality
SIO_000300: 1.354e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7432
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11978
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.803101334294987e-4
allele num: 5546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.17459e5

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.274e0

QD
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MQRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.14e-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
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 2.538071065989848e-4
allele num: 3940
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 29996
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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1836
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Latino
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allele frequency: 0.0e0
allele num: 5446
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQ
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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SIO_000300: -1.58e-1

BaseQRankSum
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SIO_000300: 4.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.95e-2

FS
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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African
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Other
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East Asian
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South Asian
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allele frequency: 9.830908375933936e-5
allele num: 10172
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1836
num of homozygotes: 0

FS
type: SiteQuality
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QD
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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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
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 4466
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.944150824327522e-5
allele num: 25354
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European (Finnish)
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allele frequency: 0.0e0
allele num: 1492
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 296
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African
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allele num: 3296
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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QD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 1432
num of homozygotes: 0

Latino
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African
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South Asian
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Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 4.051863857374392e-5
allele num: 24680
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23682
num of homozygotes: 0

African
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allele count: 3
allele frequency: 9.73393900064893e-4
allele num: 3082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1344
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.755111745126011e-4
allele num: 4206
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.597122302158274e-3
allele num: 278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3798
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

QD
type: SiteQuality
SIO_000300: 1.0e1

FS
type: SiteQuality
SIO_000300: 1.622e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.847e0

DP
type: SiteQuality
SIO_000300: 5.52831e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.48e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

GenotypeQuality
all individuals: 1033
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3003
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2926
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.146788990825688e-4
allele num: 8720
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.202e0

MQ
type: SiteQuality
SIO_000300: 5.728e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -1.116e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.344e0

DP
type: SiteQuality
SIO_000300: 5.32973e5

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.346e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.67e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2324
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.834355828220859e-4
allele num: 2608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2754
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7360
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.54708e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.78e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -2.168e0

QD
type: SiteQuality
SIO_000300: 2.137e1

MQ
type: SiteQuality
SIO_000300: 5.845e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1860
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.807200929152149e-4
allele num: 1722
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

VQSLOD
type: SiteQuality
SIO_000300: -8.147e-1

QD
type: SiteQuality
SIO_000300: 1.001e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 3.751e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.7402e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1668
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.717032967032967e-4
allele num: 5824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.66e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.408e0

QD
type: SiteQuality
SIO_000300: 8.93e0

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 3.46875e5

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

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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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.128565346956152e-4
allele num: 4698
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.777e1

VQSLOD
type: SiteQuality
SIO_000300: -2.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.06e-2

DP
type: SiteQuality
SIO_000300: 2.82314e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3838
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.35e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.26728e5

QD
type: SiteQuality
SIO_000300: 1.138e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.52181e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.08e0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.890000000000001e-2

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.11e-2

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

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

FS
type: SiteQuality
SIO_000300: 5.217e0

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

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.41281e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 6.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.566333808844508e-4
allele num: 2804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.363e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.78e-2

GenotypeQuality
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bin: 9.25e1
variant carriers: 10

GenotypeQuality
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bin: 7.25e1
variant carriers: 19

GenotypeQuality
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bin: 3.25e1
variant carriers: 11

African
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allele count: 7
allele frequency: 7.000000000000001e-2
allele num: 100
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.083333333333333e-2
allele num: 48
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 1.176470588235294e-1
allele num: 34
num of homozygotes: 0

South Asian
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allele count: 114
allele frequency: 4.272863568215892e-2
allele num: 2668
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

European (Non-Finnish)
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allele count: 67
allele frequency: 1.06687898089172e-1
allele num: 628
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.587e-1

DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.35e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 3.378378378378379e-4
allele num: 2960
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 744
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.318e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
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variant carriers: 0

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: 102
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European (Non-Finnish)
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 2
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East Asian
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Other
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South Asian
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QD
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 4.68384074941452e-3
allele num: 854
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African
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South Asian
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allele num: 3518
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East Asian
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allele frequency: 0.0e0
allele num: 64
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European (Finnish)
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allele frequency: NaN
allele num: 0
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Latino
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Other
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QD
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DP
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 706
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Latino
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South Asian
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East Asian
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African
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Other
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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SIO_000300: 5.906e1

ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 56
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
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African
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South Asian
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allele frequency: 6.349206349206349e-4
allele num: 3150
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Latino
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Other
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allele num: 38
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.844e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 3.571428571428571e-2
allele num: 56
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European (Finnish)
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allele num: 0
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African
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European (Non-Finnish)
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South Asian
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Other
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Latino
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ClippingRankSum
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SIO_000300: -1.01e-1

FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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MQ
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SIO_000300: 5.906e1

BaseQRankSum
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SIO_000300: 1.37e-1

DP
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 706
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Latino
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South Asian
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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VQSLOD
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 72
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European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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Latino
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European (Non-Finnish)
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allele frequency: 2.512562814070352e-3
allele num: 796
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European (Finnish)
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allele frequency: NaN
allele num: 0
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South Asian
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allele num: 3406
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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QD
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 702
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European (Finnish)
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allele frequency: NaN
allele num: 0
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Other
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allele frequency: 0.0e0
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African
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allele num: 62
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 552
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East Asian
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allele frequency: 0.0e0
allele num: 22
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European (Finnish)
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allele frequency: NaN
allele num: 0
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South Asian
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African
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Other
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MQRankSum
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DP
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 544
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European (Finnish)
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allele frequency: NaN
allele num: 0
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East Asian
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Latino
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South Asian
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African
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Other
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VQSLOD
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DP
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

Latino
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Other
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East Asian
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South Asian
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African
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allele frequency: 2.885725278953444e-4
allele num: 10396
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 3.706277507528376e-3
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Other
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.06e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.28205e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

GenotypeQuality
all individuals: 2988
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
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GenotypeQuality
all individuals: 4214
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: 10392
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000210014701029e-5
allele num: 66662
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

DP
type: SiteQuality
SIO_000300: 2.286598e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 9.51e0

GenotypeQuality
all individuals: 21402
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4210
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.388567461235825e-3
allele num: 8642
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
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: 10386
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.446e0

QD
type: SiteQuality
SIO_000300: 1.058e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 2.28627e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 5034
bin: 7.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516070345664039e-4
allele num: 6596
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: 10378
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

DP
type: SiteQuality
SIO_000300: 2.284861e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.321e1

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.809e0

FS
type: SiteQuality
SIO_000300: 3.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21320
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

African
type: Population
allele count: 2
allele frequency: 1.928268414963363e-4
allele num: 10372
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.31e-1

DP
type: SiteQuality
SIO_000300: 2.284237e6

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.626e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

GenotypeQuality
all individuals: 21308
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002642325246217e-5
allele num: 66608
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.589e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 4.043e0

DP
type: SiteQuality
SIO_000300: 2.283949e6

QD
type: SiteQuality
SIO_000300: 1.356e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 21191
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e0

FS
type: SiteQuality
SIO_000300: 9.574e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.184e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e0

QD
type: SiteQuality
SIO_000300: 1.02e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e0

DP
type: SiteQuality
SIO_000300: 2.282224e6

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

DP
type: SiteQuality
SIO_000300: 2.281288e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.422e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2983
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

DP
type: SiteQuality
SIO_000300: 2.278364e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 5.11e0

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.845e0

VQSLOD
type: SiteQuality
SIO_000300: -1.798e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.228e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.052e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.272912e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 7.67e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.269751e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.925e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 9.409999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008876184744998e-5
allele num: 66470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
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: 16470
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.343e0

QD
type: SiteQuality
SIO_000300: 9.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

DP
type: SiteQuality
SIO_000300: 2.264841e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 4992
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.349338900487126e-4
allele num: 11496
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.262656e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.36e0

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

FS
type: SiteQuality
SIO_000300: 3.084e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

QD
type: SiteQuality
SIO_000300: 1.632e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 572
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2977
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.250667962108331e-4
allele num: 16468
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.251581e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

GenotypeQuality
all individuals: 3246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7960
bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.761811792268645e-5
allele num: 10244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66410
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.244312e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

FS
type: SiteQuality
SIO_000300: 1.302e0

MQ
type: SiteQuality
SIO_000300: 6.073e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

GenotypeQuality
all individuals: 4728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13134
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1281
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.743375174337517e-4
allele num: 11472
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

VQSLOD
type: SiteQuality
SIO_000300: -5.667e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.856e1

DP
type: SiteQuality
SIO_000300: 2.206978e6

GenotypeQuality
all individuals: 4646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4120
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3489
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.436350347179924e-4
allele num: 16418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

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

East Asian
type: Population
allele count: 89
allele frequency: 1.046812514702423e-2
allele num: 8502
num of homozygotes: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.04e0

DP
type: SiteQuality
SIO_000300: 2.174917e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.575e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 367
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 14
allele frequency: 1.20918984280532e-3
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.002400960384154e-5
allele num: 66640
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.884004884004884e-4
allele num: 16380
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.347e1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.44e-1

DP
type: SiteQuality
SIO_000300: 3.688078e6

GenotypeQuality
all individuals: 1593
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.763e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

DP
type: SiteQuality
SIO_000300: 3.682901e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.965e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e0

QD
type: SiteQuality
SIO_000300: 1.323e1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

GenotypeQuality
all individuals: 1592
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.771e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.49e0

VQSLOD
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 3.685866e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

GenotypeQuality
all individuals: 1917
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.951e0

MQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

VQSLOD
type: SiteQuality
SIO_000300: 6.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.77e-1

DP
type: SiteQuality
SIO_000300: 3.686236e6