http://identifiers.org/exac.variant/14-93760283-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760283
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760283
    reference: chr 14
allele count: 111
allele frequency: 9.153431299787245e-4
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29944G>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.681G>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1083G>T
  hgvsp: ENSP00000335615.5:p.Lys361Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1083G>T
  hgvsp: ENSP00000451408.1:p.Lys361Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.90G>T
  hgvsp: ENSP00000376874.2:p.Lys30Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1083G>T
  hgvsp: ENSP00000298896.3:p.Lys361Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.213G>T
  hgvsp: ENSP00000450778.1:p.Lys71Asn
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 30590
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20449
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.75e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys361Asn
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

14-93760287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760287
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760287
    reference: chr 14
allele count: 17
allele frequency: 1.401807507091497e-4
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.86G>A
  hgvsp: ENSP00000376874.2:p.Gly29Glu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29948G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1079G>A
  hgvsp: ENSP00000298896.3:p.Gly360Glu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.209G>A
  hgvsp: ENSP00000450778.1:p.Gly70Glu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1079G>A
  hgvsp: ENSP00000451408.1:p.Gly360Glu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1079G>A
  hgvsp: ENSP00000335615.5:p.Gly360Glu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.677G>A
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly360Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

14-93760287-CCTGCGACGAGAGCCTGAACTTCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760287
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760264
    reference: chr 14
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsp: ENSP00000451408.1:p.Ser352ArgfsTer24
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsp: ENSP00000376874.2:p.Ser21ArgfsTer24
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsp: ENSP00000450778.1:p.Ser62ArgfsTer24
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsp: ENSP00000298896.3:p.Ser352ArgfsTer24
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsp: ENSP00000335615.5:p.Ser352ArgfsTer24
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser352ArgfsTer24
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: CCTGCGACGAGAGCCTGAACTTCA
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

14-93760288-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760288
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760288
    reference: chr 14
allele count: 2
allele frequency: 1.64923970049807e-5
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1078G>A
  hgvsp: ENSP00000451408.1:p.Gly360Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1078G>A
  hgvsp: ENSP00000298896.3:p.Gly360Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1078G>A
  hgvsp: ENSP00000335615.5:p.Gly360Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.208G>A
  hgvsp: ENSP00000450778.1:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.676G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.85G>A
  hgvsp: ENSP00000376874.2:p.Gly29Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29949G>A
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly360Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/14-93760291-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760291
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760291
    reference: chr 14
allele count: 2
allele frequency: 1.649266900862567e-5
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1075G>T
  hgvsp: ENSP00000335615.5:p.Ala359Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1075G>T
  hgvsp: ENSP00000298896.3:p.Ala359Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1075G>T
  hgvsp: ENSP00000451408.1:p.Ala359Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29952G>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.205G>T
  hgvsp: ENSP00000450778.1:p.Ala69Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.82G>T
  hgvsp: ENSP00000376874.2:p.Ala28Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.673G>T
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala359Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-93760291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760291
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760291
    reference: chr 14
allele count: 6
allele frequency: 4.9478007025877e-5
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1075G>A
  hgvsp: ENSP00000451408.1:p.Ala359Thr
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.82G>A
  hgvsp: ENSP00000376874.2:p.Ala28Thr
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1075G>A
  hgvsp: ENSP00000335615.5:p.Ala359Thr
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.673G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.205G>A
  hgvsp: ENSP00000450778.1:p.Ala69Thr
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1075G>A
  hgvsp: ENSP00000298896.3:p.Ala359Thr
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29952G>A
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala359Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

14-93760292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760292
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760292
    reference: chr 14
allele count: 36
allele frequency: 2.968288781517455e-4
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.81C>T
  hgvsp: ENST00000393170.2:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.672C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1074C>T
  hgvsp: ENST00000555525.1:c.1074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29953C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1074C>T
  hgvsp: ENST00000334746.5:c.1074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1074C>T
  hgvsp: ENST00000298896.3:c.1074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.204C>T
  hgvsp: ENST00000553975.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30544
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20557
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val358Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ

14-93760294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760294
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760294
    reference: chr 14
allele count: 5
allele frequency: 4.122351389232418e-5
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1072G>A
  hgvsp: ENSP00000451408.1:p.Val358Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.670G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1072G>A
  hgvsp: ENSP00000335615.5:p.Val358Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.79G>A
  hgvsp: ENSP00000376874.2:p.Val27Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1072G>A
  hgvsp: ENSP00000298896.3:p.Val358Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.202G>A
  hgvsp: ENSP00000450778.1:p.Val68Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29955G>A
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val358Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

14-93760295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760295
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760295
    reference: chr 14
allele count: 8
allele frequency: 6.595870984763538e-5
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29956C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.201C>T
  hgvsp: ENST00000553975.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.78C>T
  hgvsp: ENST00000393170.2:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1071C>T
  hgvsp: ENST00000298896.3:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1071C>T
  hgvsp: ENST00000555525.1:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1071C>T
  hgvsp: ENST00000334746.5:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.669C>T
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu357Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-93760297-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760297
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760297
    reference: chr 14
allele count: 7
allele frequency: 5.771101620855113e-5
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29958C>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1069C>G
  hgvsp: ENSP00000298896.3:p.Leu357Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.76C>G
  hgvsp: ENSP00000376874.2:p.Leu26Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1069C>G
  hgvsp: ENSP00000451408.1:p.Leu357Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.667C>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1069C>G
  hgvsp: ENSP00000335615.5:p.Leu357Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.199C>G
  hgvsp: ENSP00000450778.1:p.Leu67Val
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu357Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

14-93760299-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760299
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760299
    reference: chr 14
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1067C>G
  hgvsp: ENSP00000298896.3:p.Ala356Gly
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1067C>G
  hgvsp: ENSP00000451408.1:p.Ala356Gly
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.665C>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.197C>G
  hgvsp: ENSP00000450778.1:p.Ala66Gly
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1067C>G
  hgvsp: ENSP00000335615.5:p.Ala356Gly
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29960C>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.74C>G
  hgvsp: ENSP00000376874.2:p.Ala25Gly
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7041
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala356Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

14-93760302-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760302
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760302
    reference: chr 14
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1064A>G
  hgvsp: ENSP00000298896.3:p.Gln355Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1064A>G
  hgvsp: ENSP00000451408.1:p.Gln355Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29963A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1064A>G
  hgvsp: ENSP00000335615.5:p.Gln355Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.71A>G
  hgvsp: ENSP00000376874.2:p.Gln24Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.194A>G
  hgvsp: ENSP00000450778.1:p.Gln65Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.662A>G
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln355Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

14-93760318-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760318
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760318
    reference: chr 14
allele count: 5
allele frequency: 4.121943578836293e-5
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.178A>G
  hgvsp: ENSP00000450778.1:p.Ser60Gly
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1048A>G
  hgvsp: ENSP00000298896.3:p.Ser350Gly
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29979A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.646A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.55A>G
  hgvsp: ENSP00000376874.2:p.Ser19Gly
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1048A>G
  hgvsp: ENSP00000451408.1:p.Ser350Gly
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1048A>G
  hgvsp: ENSP00000335615.5:p.Ser350Gly
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20688
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser350Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/14-93760332-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760332
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760332
    reference: chr 14
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.164G>T
  hgvsp: ENSP00000450778.1:p.Ser55Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.632G>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1034G>T
  hgvsp: ENSP00000335615.5:p.Ser345Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1034G>T
  hgvsp: ENSP00000298896.3:p.Ser345Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.41G>T
  hgvsp: ENSP00000376874.2:p.Ser14Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1034G>T
  hgvsp: ENSP00000451408.1:p.Ser345Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29993G>T
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser345Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

14-93760337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760337
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760337
    reference: chr 14
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29998C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.36C>T
  hgvsp: ENST00000393170.2:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1029C>T
  hgvsp: ENST00000298896.3:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1029C>T
  hgvsp: ENST00000555525.1:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.159C>T
  hgvsp: ENST00000553975.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1029C>T
  hgvsp: ENST00000334746.5:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.627C>T
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His343His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-93760338-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760338
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760338
    reference: chr 14
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.158A>G
  hgvsp: ENSP00000450778.1:p.His53Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1028A>G
  hgvsp: ENSP00000451408.1:p.His343Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-29999A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1028A>G
  hgvsp: ENSP00000298896.3:p.His343Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1028A>G
  hgvsp: ENSP00000335615.5:p.His343Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.35A>G
  hgvsp: ENSP00000376874.2:p.His12Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.626A>G
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His343Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-93760357-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760357
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760357
    reference: chr 14
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.139G>T
  hgvsp: ENSP00000450778.1:p.Val47Leu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30018G>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1009G>T
  hgvsp: ENSP00000298896.3:p.Val337Leu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1009G>T
  hgvsp: ENSP00000451408.1:p.Val337Leu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.607G>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1009G>T
  hgvsp: ENSP00000335615.5:p.Val337Leu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.16G>T
  hgvsp: ENSP00000376874.2:p.Val6Leu
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val337Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

14-93760361-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760361
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760361
    reference: chr 14
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1005C>T
  hgvsp: ENST00000555525.1:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1005C>T
  hgvsp: ENST00000334746.5:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.603C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30022C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.135C>T
  hgvsp: ENST00000553975.1:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.12C>T
  hgvsp: ENST00000393170.2:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1005C>T
  hgvsp: ENST00000298896.3:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp335Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

14-93760364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760364
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760364
    reference: chr 14
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.1002C>T
  hgvsp: ENST00000334746.5:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.1002C>T
  hgvsp: ENST00000298896.3:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.600C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.132C>T
  hgvsp: ENST00000553975.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.1002C>T
  hgvsp: ENST00000555525.1:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.9C>T
  hgvsp: ENST00000393170.2:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30025C>T
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48050
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr334Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

14-93760384-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760384
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760384
    reference: chr 14
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.982A>G
  hgvsp: ENSP00000451408.1:p.Ile328Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.112A>G
  hgvsp: ENSP00000450778.1:p.Ile38Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-12A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30045A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.982A>G
  hgvsp: ENSP00000298896.3:p.Ile328Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.580A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.982A>G
  hgvsp: ENSP00000335615.5:p.Ile328Val
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile328Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

14-93760390-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760390
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760390
    reference: chr 14
allele count: 2
allele frequency: 1.65000165000165e-5
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-18A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.976A>G
  hgvsp: ENSP00000451408.1:p.Thr326Ala
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.574A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.976A>G
  hgvsp: ENSP00000298896.3:p.Thr326Ala
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.976A>G
  hgvsp: ENSP00000335615.5:p.Thr326Ala
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30051A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.106A>G
  hgvsp: ENSP00000450778.1:p.Thr36Ala
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr326Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

14-93760391-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760391
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760391
    reference: chr 14
allele count: 14
allele frequency: 1.155020212853725e-4
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.975A>C
  hgvsp: ENST00000298896.3:c.975A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-19A>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.975A>C
  hgvsp: ENST00000555525.1:c.975A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.105A>C
  hgvsp: ENST00000553975.1:c.105A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30052A>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.573A>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.975A>C
  hgvsp: ENST00000334746.5:c.975A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29419
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6949
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala325Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

14-93760394-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760394
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760394
    reference: chr 14
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.972T>C
  hgvsp: ENST00000334746.5:c.972T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30055T>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.972T>C
  hgvsp: ENST00000298896.3:c.972T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.102T>C
  hgvsp: ENST00000553975.1:c.102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.972T>C
  hgvsp: ENST00000555525.1:c.972T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.570T>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-22T>C
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr324Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

14-93760397-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760397
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760397
    reference: chr 14
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-25A>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.969A>T
  hgvsp: ENSP00000298896.3:p.Lys323Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.99A>T
  hgvsp: ENSP00000450778.1:p.Lys33Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.969A>T
  hgvsp: ENSP00000451408.1:p.Lys323Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.969A>T
  hgvsp: ENSP00000335615.5:p.Lys323Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.567A>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30058A>T
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys323Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

14-93760400-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760400
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760400
    reference: chr 14
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.966A>G
  hgvsp: ENST00000555525.1:c.966A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.966A>G
  hgvsp: ENST00000334746.5:c.966A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.564A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.96A>G
  hgvsp: ENST00000553975.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.966A>G
  hgvsp: ENST00000298896.3:c.966A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-28A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30061A>G
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys322Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

14-93760411-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760411
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760411
    reference: chr 14
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.85A>G
  hgvsp: ENSP00000450778.1:p.Ile29Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.955A>G
  hgvsp: ENSP00000335615.5:p.Ile319Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.553A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.955A>G
  hgvsp: ENSP00000298896.3:p.Ile319Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30072A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-39A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.955A>G
  hgvsp: ENSP00000451408.1:p.Ile319Val
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28536
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6935
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile319Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

14-93760433-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760433
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760433
    reference: chr 14
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-61A>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.933A>C
  hgvsp: ENST00000334746.5:c.933A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.531A>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.933A>C
  hgvsp: ENST00000555525.1:c.933A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.933A>C
  hgvsp: ENST00000298896.3:c.933A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.63A>C
  hgvsp: ENST00000553975.1:c.63A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30094A>C
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr311Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-93760438-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760438
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760438
    reference: chr 14
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-66C>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.526C>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.928C>A
  hgvsp: ENSP00000298896.3:p.Pro310Thr
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.928C>A
  hgvsp: ENSP00000335615.5:p.Pro310Thr
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.928C>A
  hgvsp: ENSP00000451408.1:p.Pro310Thr
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30099C>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.58C>A
  hgvsp: ENSP00000450778.1:p.Pro20Thr
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro310Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

14-93760452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760452
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760452
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 121156
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.914G>A
  hgvsp: ENSP00000335615.5:p.Arg305Gln
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.44G>A
  hgvsp: ENSP00000450778.1:p.Arg15Gln
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.512G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30113G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.914G>A
  hgvsp: ENSP00000298896.3:p.Arg305Gln
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-80G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.914G>A
  hgvsp: ENSP00000451408.1:p.Arg305Gln
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28003
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg305Gln
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

14-93760462-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760462
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760462
    reference: chr 14
allele count: 2
allele frequency: 1.650573574317075e-5
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-90A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.904A>G
  hgvsp: ENSP00000335615.5:p.Ile302Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30123A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.34A>G
  hgvsp: ENSP00000450778.1:p.Ile12Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.904A>G
  hgvsp: ENSP00000298896.3:p.Ile302Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.904A>G
  hgvsp: ENSP00000451408.1:p.Ile302Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.502A>G
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile302Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

14-93760476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760476
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760476
    reference: chr 14
allele count: 105
allele frequency: 8.668659082277959e-4
allele num: 121126
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.890G>A
  hgvsp: ENSP00000335615.5:p.Arg297Gln
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.20G>A
  hgvsp: ENSP00000450778.1:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.890G>A
  hgvsp: ENSP00000451408.1:p.Arg297Gln
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.488G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.890G>A
  hgvsp: ENSP00000298896.3:p.Arg297Gln
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30137G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-104G>A
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27622
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22306
  bin: 2.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg297Gln
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

14-93760481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760481
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760481
    reference: chr 14
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.15G>A
  hgvsp: ENST00000553975.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.885G>A
  hgvsp: ENST00000555525.1:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.885G>A
  hgvsp: ENST00000334746.5:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30142G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.483G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.885G>A
  hgvsp: ENST00000298896.3:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-109G>A
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg295Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

14-93760489-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760489
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760489
    reference: chr 14
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000376874
  ensembl transcript: ENST00000393170
  gene symbol: BTBD7
  hgvsc: ENST00000393170.2:c.-117C>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30150C>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.877C>G
  hgvsp: ENSP00000451408.1:p.Gln293Glu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.877C>G
  hgvsp: ENSP00000335615.5:p.Gln293Glu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.475C>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.877C>G
  hgvsp: ENSP00000298896.3:p.Gln293Glu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000450778
  ensembl transcript: ENST00000553975
  gene symbol: BTBD7
  hgvsc: ENST00000553975.1:c.7C>G
  hgvsp: ENSP00000450778.1:p.Gln3Glu
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 27422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln293Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

14-93760497-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760497
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760497
    reference: chr 14
allele count: 3
allele frequency: 2.479379824459908e-5
allele num: 120998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30158A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.869A>G
  hgvsp: ENSP00000451408.1:p.Asn290Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.869A>G
  hgvsp: ENSP00000298896.3:p.Asn290Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.869A>G
  hgvsp: ENSP00000335615.5:p.Asn290Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.467A>G
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47903
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn290Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-93760500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760500
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760500
    reference: chr 14
allele count: 4
allele frequency: 3.30611300294244e-5
allele num: 120988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30161G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.866G>A
  hgvsp: ENSP00000451408.1:p.Arg289Gln
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.866G>A
  hgvsp: ENSP00000298896.3:p.Arg289Gln
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.464G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.866G>A
  hgvsp: ENSP00000335615.5:p.Arg289Gln
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47841
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg289Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

14-93760515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760515
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760515
    reference: chr 14
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.851G>A
  hgvsp: ENSP00000298896.3:p.Arg284Gln
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.449G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30176G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.851G>A
  hgvsp: ENSP00000451408.1:p.Arg284Gln
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.851G>A
  hgvsp: ENSP00000335615.5:p.Arg284Gln
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 22674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg284Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/14-93760526-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760526
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760526
    reference: chr 14
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.840T>G
  hgvsp: ENST00000555525.1:c.840T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.840T>G
  hgvsp: ENST00000298896.3:c.840T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.438T>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.840T>G
  hgvsp: ENST00000334746.5:c.840T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30187T>G
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val280Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

14-93760549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760549
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760549
    reference: chr 14
allele count: 2
allele frequency: 1.653329806229747e-5
allele num: 120968
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.817G>A
  hgvsp: ENSP00000335615.5:p.Glu273Lys
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.817G>A
  hgvsp: ENSP00000298896.3:p.Glu273Lys
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.415G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30210G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.817G>A
  hgvsp: ENSP00000451408.1:p.Glu273Lys
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu273Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

14-93760550-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760550
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760550
    reference: chr 14
allele count: 3
allele frequency: 2.479953707530793e-5
allele num: 120970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30211A>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.414A>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.816A>T
  hgvsp: ENSP00000335615.5:p.Glu272Asp
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.816A>T
  hgvsp: ENSP00000298896.3:p.Glu272Asp
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.816A>T
  hgvsp: ENSP00000451408.1:p.Glu272Asp
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu272Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

14-93760562-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760562
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760562
    reference: chr 14
allele count: 3
allele frequency: 2.480527856327827e-5
allele num: 120942
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30223C>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.804C>G
  hgvsp: ENSP00000298896.3:p.Asn268Lys
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.804C>G
  hgvsp: ENSP00000451408.1:p.Asn268Lys
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.804C>G
  hgvsp: ENSP00000335615.5:p.Asn268Lys
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.402C>G
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48282
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn268Lys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

14-93760569-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760569
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760569
    reference: chr 14
allele count: 42
allele frequency: 3.473026163463765e-4
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.797A>G
  hgvsp: ENSP00000451408.1:p.Asn266Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.797A>G
  hgvsp: ENSP00000335615.5:p.Asn266Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.395A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.797A>G
  hgvsp: ENSP00000298896.3:p.Asn266Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30230A>G
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22822
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 9.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn266Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-93760574-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760574
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760574
    reference: chr 14
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.792T>C
  hgvsp: ENST00000298896.3:c.792T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.792T>C
  hgvsp: ENST00000555525.1:c.792T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30235T>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.390T>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.792T>C
  hgvsp: ENST00000334746.5:c.792T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly264Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-93760577-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760577
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760577
    reference: chr 14
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.387T>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.789T>G
  hgvsp: ENSP00000451408.1:p.Phe263Leu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.789T>G
  hgvsp: ENSP00000335615.5:p.Phe263Leu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30238T>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.789T>G
  hgvsp: ENSP00000298896.3:p.Phe263Leu
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe263Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

14-93760588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760588
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760588
    reference: chr 14
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.376G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.778G>A
  hgvsp: ENSP00000335615.5:p.Val260Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.778G>A
  hgvsp: ENSP00000451408.1:p.Val260Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.778G>A
  hgvsp: ENSP00000298896.3:p.Val260Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30249G>A
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val260Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

14-93760593-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760593
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760593
    reference: chr 14
allele count: 2
allele frequency: 1.654013463669594e-5
allele num: 120918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.371A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.773A>G
  hgvsp: ENSP00000335615.5:p.Glu258Gly
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.773A>G
  hgvsp: ENSP00000451408.1:p.Glu258Gly
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30254A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.773A>G
  hgvsp: ENSP00000298896.3:p.Glu258Gly
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu258Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

14-93760598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760598
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760598
    reference: chr 14
allele count: 2
allele frequency: 1.653904040487571e-5
allele num: 120926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30259C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.366C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.768C>T
  hgvsp: ENST00000298896.3:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.768C>T
  hgvsp: ENST00000555525.1:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.768C>T
  hgvsp: ENST00000334746.5:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp256Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-93760618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760618
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760618
    reference: chr 14
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.748G>A
  hgvsp: ENSP00000451408.1:p.Val250Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.346G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.748G>A
  hgvsp: ENSP00000335615.5:p.Val250Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.748G>A
  hgvsp: ENSP00000298896.3:p.Val250Ile
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30279G>A
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val250Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

14-93760619-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760619
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760619
    reference: chr 14
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.747C>T
  hgvsp: ENST00000298896.3:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.747C>T
  hgvsp: ENST00000555525.1:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.345C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30280C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.747C>T
  hgvsp: ENST00000334746.5:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7020
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val249Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

14-93760626-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760626
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760626
    reference: chr 14
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.740A>C
  hgvsp: ENSP00000451408.1:p.Tyr247Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.740A>C
  hgvsp: ENSP00000298896.3:p.Tyr247Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.740A>C
  hgvsp: ENSP00000335615.5:p.Tyr247Ser
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.338A>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30287A>C
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr247Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-93760632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760632
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760632
    reference: chr 14
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30293G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.734G>A
  hgvsp: ENSP00000298896.3:p.Cys245Tyr
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.734G>A
  hgvsp: ENSP00000335615.5:p.Cys245Tyr
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.734G>A
  hgvsp: ENSP00000451408.1:p.Cys245Tyr
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.332G>A
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys245Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-93760635-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760635
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760635
    reference: chr 14
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.731T>G
  hgvsp: ENSP00000451408.1:p.Met244Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.731T>G
  hgvsp: ENSP00000335615.5:p.Met244Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.329T>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.731T>G
  hgvsp: ENSP00000298896.3:p.Met244Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30296T>G
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met244Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

14-93760636-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760636
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760636
    reference: chr 14
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.328A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.730A>G
  hgvsp: ENSP00000451408.1:p.Met244Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.730A>G
  hgvsp: ENSP00000298896.3:p.Met244Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30297A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.730A>G
  hgvsp: ENSP00000335615.5:p.Met244Val
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met244Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

14-93760639-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760639
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760639
    reference: chr 14
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.727T>C
  hgvsp: ENSP00000335615.5:p.Tyr243His
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30300T>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.325T>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.727T>C
  hgvsp: ENSP00000451408.1:p.Tyr243His
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.727T>C
  hgvsp: ENSP00000298896.3:p.Tyr243His
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 7037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 48481
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr243His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

14-93760643-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760643
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760643
    reference: chr 14
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.723T>A
  hgvsp: ENSP00000451408.1:p.Phe241Leu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.321T>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.723T>A
  hgvsp: ENSP00000335615.5:p.Phe241Leu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30304T>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.723T>A
  hgvsp: ENSP00000298896.3:p.Phe241Leu
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe241Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

14-93760651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760651
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760651
    reference: chr 14
allele count: 3
allele frequency: 2.477414240177052e-5
allele num: 121094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.313G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30312G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.715G>A
  hgvsp: ENSP00000451408.1:p.Gly239Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.715G>A
  hgvsp: ENSP00000335615.5:p.Gly239Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.715G>A
  hgvsp: ENSP00000298896.3:p.Gly239Arg
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly239Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

14-93760654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760654
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760654
    reference: chr 14
allele count: 6
allele frequency: 4.954010271314629e-5
allele num: 121114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.310C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.712C>T
  hgvsp: ENSP00000335615.5:p.Arg238Cys
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30315C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.712C>T
  hgvsp: ENSP00000451408.1:p.Arg238Cys
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.712C>T
  hgvsp: ENSP00000298896.3:p.Arg238Cys
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg238Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

14-93760658-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760658
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760658
    reference: chr 14
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.708T>C
  hgvsp: ENST00000555525.1:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.306T>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.708T>C
  hgvsp: ENST00000334746.5:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30319T>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.708T>C
  hgvsp: ENST00000298896.3:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp236Asp
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

14-93760664-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760664
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760664
    reference: chr 14
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.702T>A
  hgvsp: ENSP00000335615.5:p.Asp234Glu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.300T>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.702T>A
  hgvsp: ENSP00000298896.3:p.Asp234Glu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30325T>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.702T>A
  hgvsp: ENSP00000451408.1:p.Asp234Glu
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp234Glu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/14-93760667-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760667
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760667
    reference: chr 14
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30328T>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.699T>G
  hgvsp: ENST00000298896.3:c.699T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.699T>G
  hgvsp: ENST00000555525.1:c.699T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.699T>G
  hgvsp: ENST00000334746.5:c.699T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.297T>G
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu233Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

14-93760669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760669
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760669
    reference: chr 14
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.295C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.697C>T
  hgvsp: ENSP00000451408.1:p.Leu233Phe
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.697C>T
  hgvsp: ENSP00000335615.5:p.Leu233Phe
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30330C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.697C>T
  hgvsp: ENSP00000298896.3:p.Leu233Phe
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu233Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

14-93760684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760684
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760684
    reference: chr 14
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.682G>A
  hgvsp: ENSP00000298896.3:p.Gly228Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.280G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30345G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.682G>A
  hgvsp: ENSP00000335615.5:p.Gly228Arg
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.682G>A
  hgvsp: ENSP00000451408.1:p.Gly228Arg
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly228Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

14-93760690-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760690
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760690
    reference: chr 14
allele count: 20
allele frequency: 1.649892756970797e-4
allele num: 121220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.676G>C
  hgvsp: ENSP00000298896.3:p.Glu226Gln
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30351G>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.676G>C
  hgvsp: ENSP00000451408.1:p.Glu226Gln
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.274G>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.676G>C
  hgvsp: ENSP00000335615.5:p.Glu226Gln
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23085
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu226Gln
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

14-93760691-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760691
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760691
    reference: chr 14
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.675A>G
  hgvsp: ENST00000334746.5:c.675A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.675A>G
  hgvsp: ENST00000298896.3:c.675A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30352A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.675A>G
  hgvsp: ENST00000555525.1:c.675A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.273A>G
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu225Glu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

14-93760708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760708
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760708
    reference: chr 14
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30369C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.256C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.658C>T
  hgvsp: ENSP00000451408.1:p.Leu220Phe
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.658C>T
  hgvsp: ENSP00000298896.3:p.Leu220Phe
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.658C>T
  hgvsp: ENSP00000335615.5:p.Leu220Phe
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu220Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

14-93760714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760714
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760714
    reference: chr 14
allele count: 2
allele frequency: 1.650246711883427e-5
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.652G>A
  hgvsp: ENSP00000298896.3:p.Asp218Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.652G>A
  hgvsp: ENSP00000451408.1:p.Asp218Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.250G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.652G>A
  hgvsp: ENSP00000335615.5:p.Asp218Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30375G>A
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp218Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

14-93760715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760715
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760715
    reference: chr 14
allele count: 17
allele frequency: 1.402756002970542e-4
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.651C>T
  hgvsp: ENST00000555525.1:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.249C>T
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.651C>T
  hgvsp: ENST00000298896.3:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.651C>T
  hgvsp: ENST00000334746.5:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30376C>T
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val217Val
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

14-93760729-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760729
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760729
    reference: chr 14
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.637A>G
  hgvsp: ENSP00000335615.5:p.Arg213Gly
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30390A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.637A>G
  hgvsp: ENSP00000451408.1:p.Arg213Gly
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.235A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.637A>G
  hgvsp: ENSP00000298896.3:p.Arg213Gly
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg213Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

14-93760735-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760735
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760735
    reference: chr 14
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.631G>A
  hgvsp: ENSP00000335615.5:p.Asp211Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.631G>A
  hgvsp: ENSP00000451408.1:p.Asp211Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.631G>A
  hgvsp: ENSP00000298896.3:p.Asp211Asn
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.229G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30396G>A
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp211Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

14-93760752-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760752
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760752
    reference: chr 14
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.614G>C
  hgvsp: ENSP00000335615.5:p.Gly205Ala
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.212G>C
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.614G>C
  hgvsp: ENSP00000451408.1:p.Gly205Ala
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.614G>C
  hgvsp: ENSP00000298896.3:p.Gly205Ala
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30413G>C
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly205Ala
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

14-93760786-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760786
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760786
    reference: chr 14
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.580A>G
  hgvsp: ENSP00000335615.5:p.Met194Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.580A>G
  hgvsp: ENSP00000451408.1:p.Met194Val
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30447A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.178A>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.580A>G
  hgvsp: ENSP00000298896.3:p.Met194Val
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met194Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

14-93760791-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760791
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760791
    reference: chr 14
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30452T>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.575T>A
  hgvsp: ENSP00000335615.5:p.Met192Lys
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.575T>A
  hgvsp: ENSP00000298896.3:p.Met192Lys
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.575T>A
  hgvsp: ENSP00000451408.1:p.Met192Lys
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.173T>A
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6938
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met192Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/14-93760793-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760793
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760793
    reference: chr 14
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.573T>G
  hgvsp: ENSP00000335615.5:p.Asp191Glu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.573T>G
  hgvsp: ENSP00000451408.1:p.Asp191Glu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30454T>G
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.573T>G
  hgvsp: ENSP00000298896.3:p.Asp191Glu
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.171T>G
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp191Glu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

14-93760800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93760800
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 93760800
    reference: chr 14
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011114
  ensembl transcript: ENST00000554644
  gene symbol: BTBD7
  hgvsc: ENST00000554644.1:n.164G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451010
  ensembl transcript: ENST00000554565
  gene symbol: BTBD7
  hgvsc: ENST00000554565.1:c.110-30461G>A
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000298896
  ensembl transcript: ENST00000298896
  gene symbol: BTBD7
  hgvsc: ENST00000298896.3:c.566G>A
  hgvsp: ENSP00000298896.3:p.Gly189Asp
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000335615
  ensembl transcript: ENST00000334746
  gene symbol: BTBD7
  hgvsc: ENST00000334746.5:c.566G>A
  hgvsp: ENSP00000335615.5:p.Gly189Asp
  variant of: http://identifiers.org/hgnc/18269
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011114
  ensembl protein: ENSP00000451408
  ensembl transcript: ENST00000555525
  gene symbol: BTBD7
  hgvsc: ENST00000555525.1:c.566G>A
  hgvsp: ENSP00000451408.1:p.Gly189Asp
  variant of: http://identifiers.org/hgnc/18269
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly189Asp
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48023
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 110
allele frequency: 6.665050896752302e-3
allele num: 16504
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

MQ
type: SiteQuality
SIO_000300: 5.861e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

DP
type: SiteQuality
SIO_000300: 1.558409e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.387e0

GenotypeQuality
all individuals: 7037
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 16
allele frequency: 2.399448126930806e-4
allele num: 66682
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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

DP
type: SiteQuality
SIO_000300: 1.556462e6

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.866e1

QD
type: SiteQuality
SIO_000300: 1.161e1

FS
type: SiteQuality
SIO_000300: 1.113e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.06e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.113e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

DP
type: SiteQuality
SIO_000300: 1.556462e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.161e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 5.885e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.006e-1

DP
type: SiteQuality
SIO_000300: 1.555983e6

QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999490086685263e-5
allele num: 66678
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: 10404
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.556736e6

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.298e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7032
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.99847026005579e-5
allele num: 66678
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.556736e6

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 36

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
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: 66688
num of homozygotes: 0

African
type: Population
allele count: 33
allele frequency: 3.171856978085352e-3
allele num: 10404
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.55774e6

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.857e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 5
allele frequency: 5.785697755149271e-4
allele num: 8642
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

FS
type: SiteQuality
SIO_000300: 1.139e0

DP
type: SiteQuality
SIO_000300: 1.556876e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele count: 3
allele frequency: 2.601456815816858e-4
allele num: 11532
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.497375918428549e-5
allele num: 66690
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.266e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
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East Asian
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South Asian
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allele frequency: 4.240368306275745e-4
allele num: 16508
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

BaseQRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.604e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

African
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MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.78e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

FS
type: SiteQuality
SIO_000300: 7.877e0

DP
type: SiteQuality
SIO_000300: 1.556841e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.905e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 1.557277e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 6.083e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-3

QD
type: SiteQuality
SIO_000300: 1.159e1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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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: 5

GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

South Asian
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allele count: 5
allele frequency: 3.028834504482675e-4
allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.877e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.584e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

DP
type: SiteQuality
SIO_000300: 1.557594e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
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: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.723e0

QD
type: SiteQuality
SIO_000300: 1.379e1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

DP
type: SiteQuality
SIO_000300: 1.557702e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-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
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GenotypeQuality
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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: 48370
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variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 66710
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.458e0

QD
type: SiteQuality
SIO_000300: 1.339e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 4.18e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 1.557601e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.764e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

GenotypeQuality
all individuals: 1510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.557562e6

MQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

QD
type: SiteQuality
SIO_000300: 9.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.905e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 3.093e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.65e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.092e1

DP
type: SiteQuality
SIO_000300: 1.556785e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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African
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allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.556685e6

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.16e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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South Asian
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Other
type: Population
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

African
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: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

Other
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European (Finnish)
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allele num: 6602
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FS
type: SiteQuality
SIO_000300: 6.57e-1

BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 168
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.698e1

FS
type: SiteQuality
SIO_000300: 2.718e0

DP
type: SiteQuality
SIO_000300: 1.551465e6

VQSLOD
type: SiteQuality
SIO_000300: -1.492e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.99e-1

GenotypeQuality
all individuals: 222
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 9.75e1
variant carriers: 14

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

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.10014701029072e-4
allele num: 66662
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

QD
type: SiteQuality
SIO_000300: 1.567e1

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 1.783e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 1.551783e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

GenotypeQuality
all individuals: 6954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1180
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
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: 6602
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.471e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.491e0

MQ
type: SiteQuality
SIO_000300: 5.523e1

FS
type: SiteQuality
SIO_000300: 1.114e0

DP
type: SiteQuality
SIO_000300: 1.551432e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

QD
type: SiteQuality
SIO_000300: 7.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 507
bin: 5.25e1
variant carriers: 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: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.26e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

DP
type: SiteQuality
SIO_000300: 1.560911e6

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.312e0

FS
type: SiteQuality
SIO_000300: 1.2439e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.076e0

MQRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.554116e6

GenotypeQuality
all individuals: 1410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 262
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variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 9.75e1
variant carriers: 1

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.555054e6

VQSLOD
type: SiteQuality
SIO_000300: -5.222e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.548e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.673e0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 162
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variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.668e0

MQ
type: SiteQuality
SIO_000300: 5.888e1

VQSLOD
type: SiteQuality
SIO_000300: -7.264e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

DP
type: SiteQuality
SIO_000300: 1.55983e6

FS
type: SiteQuality
SIO_000300: 4.096e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e0

GenotypeQuality
all individuals: 245
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 169
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 1.561612e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

FS
type: SiteQuality
SIO_000300: 3.278e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.846e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.301e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.099e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.565208e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 8.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 5.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.477e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-1

DP
type: SiteQuality
SIO_000300: 1.567042e6

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.492e0

QD
type: SiteQuality
SIO_000300: 1.336e1

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 9.75e1
variant carriers: 105

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 9.25e1
variant carriers: 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: 16500
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.338018393197987e-4
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.816207832493214e-4
allele num: 10316
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: 94
allele frequency: 1.410479563051438e-3
allele num: 66644
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.321e1

DP
type: SiteQuality
SIO_000300: 1.571043e6

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

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47870
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.883e1

MQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.845e0

FS
type: SiteQuality
SIO_000300: 1.655e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 8.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.175e0

DP
type: SiteQuality
SIO_000300: 1.568264e6

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47783
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1069
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7021
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.568438e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.421e0

FS
type: SiteQuality
SIO_000300: 8.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -2.94e0

QD
type: SiteQuality
SIO_000300: 2.24e1

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500315022051544e-5
allele num: 66662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.732e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

QD
type: SiteQuality
SIO_000300: 1.532e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 1.568661e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-2

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7022
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500180007200288e-5
allele num: 66664
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.846396218983852e-5
allele num: 10156
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.7e-1

FS
type: SiteQuality
SIO_000300: 4.094e0

VQSLOD
type: SiteQuality
SIO_000300: -1.36e0

QD
type: SiteQuality
SIO_000300: 1.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

MQ
type: SiteQuality
SIO_000300: 5.468e1

DP
type: SiteQuality
SIO_000300: 1.569107e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeQuality
all individuals: 48126
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.124e0

FS
type: SiteQuality
SIO_000300: 2.504e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.54e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 1.570969e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

QD
type: SiteQuality
SIO_000300: 2.912e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
all individuals: 48282
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 261
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.571874e6

FS
type: SiteQuality
SIO_000300: 1.124e0

QD
type: SiteQuality
SIO_000300: 1.635e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.882e1

VQSLOD
type: SiteQuality
SIO_000300: -1.016e0

GenotypeQuality
all individuals: 7061
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.572513e6

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 6.899999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.859e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.353e1

GenotypeQuality
all individuals: 251
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 3.473e0

DP
type: SiteQuality
SIO_000300: 1.572582e6

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.227e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

QD
type: SiteQuality
SIO_000300: 1.472e1

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499370088187654e-5
allele num: 66676
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.89e-1

FS
type: SiteQuality
SIO_000300: 1.112e0

MQ
type: SiteQuality
SIO_000300: 5.87e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 1.572471e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.393e1

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

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7033
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 7.75e1
variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

Latino
type: Population
allele count: 42
allele frequency: 3.636363636363636e-3
allele num: 11550
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.574461e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.418e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.25e1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 1.572307e6

FS
type: SiteQuality
SIO_000300: 8.63e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.952229299363058e-5
allele num: 10048
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: 11558
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

VQSLOD
type: SiteQuality
SIO_000300: -2.456e0

FS
type: SiteQuality
SIO_000300: 1.4029e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.572302e6

MQ
type: SiteQuality
SIO_000300: 5.739e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.86e0

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.837e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.883e0

MQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

DP
type: SiteQuality
SIO_000300: 1.572381e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-1

QD
type: SiteQuality
SIO_000300: 1.004e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7032
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000750187546887e-5
allele num: 66650
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 1.432e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.221e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.572304e6

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1051
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variant carriers: 0

GenotypeQuality
all individuals: 48197
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
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: 66650
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.844e1

FS
type: SiteQuality
SIO_000300: 1.515e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.642e0

VQSLOD
type: SiteQuality
SIO_000300: -2.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.437e0

QD
type: SiteQuality
SIO_000300: 9.82e0

DP
type: SiteQuality
SIO_000300: 1.572466e6

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 256
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
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variant carriers: 0

GenotypeQuality
all individuals: 7022
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 8.159999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.77e-1

DP
type: SiteQuality
SIO_000300: 1.573258e6

MQRankSum
type: SiteQuality
SIO_000300: -1.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.854e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.158e1

VQSLOD
type: SiteQuality
SIO_000300: -1.987e0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.843e1

FS
type: SiteQuality
SIO_000300: 4.82e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.573326e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.583e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-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
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.111e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.868e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 7027
bin: 6.75e1
variant carriers: 0

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

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.574189e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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num of homozygotes: 0

African
type: Population
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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: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.574564e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 492
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variant carriers: 0

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

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

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

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

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.786e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.042e0

VQSLOD
type: SiteQuality
SIO_000300: -1.713e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

QD
type: SiteQuality
SIO_000300: 1.668e1

DP
type: SiteQuality
SIO_000300: 1.57455e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1159
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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.657e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.32e0

FS
type: SiteQuality
SIO_000300: 6.613e0

DP
type: SiteQuality
SIO_000300: 1.574946e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

VQSLOD
type: SiteQuality
SIO_000300: -8.518e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

DP
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SIO_000300: 1.575118e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

FS
type: SiteQuality
SIO_000300: 1.299e0

ClippingRankSum
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SIO_000300: -9.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.165e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500720115218435e-5
allele num: 66656
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

MQ
type: SiteQuality
SIO_000300: 5.904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.257e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

DP
type: SiteQuality
SIO_000300: 1.575622e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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bin: 2.25e1
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: 2
allele frequency: 3.000390050706592e-5
allele num: 66658
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.470615455807496e-4
allele num: 8644
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 1
allele frequency: 9.771350400625366e-5
allele num: 10234
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.575998e6

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 256
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
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South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.576126e6

QD
type: SiteQuality
SIO_000300: 1.337e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.071e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

FS
type: SiteQuality
SIO_000300: 6.09e-1

DP
type: SiteQuality
SIO_000300: 1.576475e6

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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

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

Other
type: Population
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allele num: 906
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ClippingRankSum
type: SiteQuality
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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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QD
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MQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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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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Latino
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African
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Other
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allele num: 906
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 16
allele frequency: 1.850994909763998e-3
allele num: 8644
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

South Asian
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allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
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DP
type: SiteQuality
SIO_000300: 1.578084e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
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VQSLOD
type: SiteQuality
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QD
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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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

East Asian
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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: 66660
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

QD
type: SiteQuality
SIO_000300: 9.19e0

DP
type: SiteQuality
SIO_000300: 1.577098e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48698
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 489
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 10356
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 8.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.008e0

DP
type: SiteQuality
SIO_000300: 1.577359e6

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 9.75e1
variant carriers: 2

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
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: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-1

MQ
type: SiteQuality
SIO_000300: 5.777e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.972e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

FS
type: SiteQuality
SIO_000300: 6.878e0

DP
type: SiteQuality
SIO_000300: 1.577176e6

QD
type: SiteQuality
SIO_000300: 1.414e1

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 9.75e1
variant carriers: 17

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050357121421283e-4
allele num: 66644
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.699014111734003e-4
allele num: 10346
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.121e0

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 1.577847e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.192e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
all individuals: 256
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.688044952528579e-5
allele num: 10322
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
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: 3.92e0

FS
type: SiteQuality
SIO_000300: 1.032e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

DP
type: SiteQuality
SIO_000300: 1.576293e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 224
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
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: 6608
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.56e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

FS
type: SiteQuality
SIO_000300: 3.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.553e0

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

DP
type: SiteQuality
SIO_000300: 1.57558e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e-1

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 6986
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
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: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

DP
type: SiteQuality
SIO_000300: 1.574427e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 2.281e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502584445245823e-5
allele num: 66552
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: 16492
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.037e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.56952e6

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.247e0

VQSLOD
type: SiteQuality
SIO_000300: -4.94e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
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: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 2.154e0

MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.396e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.321e0

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

DP
type: SiteQuality
SIO_000300: 1.568667e6

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
all individuals: 251
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GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
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: 10090
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.41e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

DP
type: SiteQuality
SIO_000300: 1.568386e6

FS
type: SiteQuality
SIO_000300: 9.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

MQ
type: SiteQuality
SIO_000300: 5.966e1