3-127646725-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646725
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646725
    reference: chr 3
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1189A>G
  hgvsp: ENSP00000385879.1:p.Lys397Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+48A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.10A>G
  hgvsp: ENSP00000385830.3:p.Lys4Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2251A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1190A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12296A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1189A>G
  hgvsp: ENSP00000385957.1:p.Lys397Glu
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  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: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys397Glu
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: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

3-127646731-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646731
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646731
    reference: chr 3
allele count: 1
allele frequency: 8.277186418792524e-6
allele num: 120814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12302C>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2245C>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1195C>G
  hgvsp: ENSP00000385879.1:p.Gln399Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.16C>G
  hgvsp: ENSP00000385830.3:p.Gln6Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1196C>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1195C>G
  hgvsp: ENSP00000385957.1:p.Gln399Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+54C>G
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47201
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln399Glu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

3-127646737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646737
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646737
    reference: chr 3
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2239C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1201C>T
  hgvsp: ENSP00000385879.1:p.Leu401Phe
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.22C>T
  hgvsp: ENSP00000385830.3:p.Leu8Phe
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+60C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1202C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12308C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1201C>T
  hgvsp: ENSP00000385957.1:p.Leu401Phe
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu401Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

3-127646740-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646740
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646740
    reference: chr 3
allele count: 2
allele frequency: 1.655300271469245e-5
allele num: 120824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.25A>G
  hgvsp: ENSP00000385830.3:p.Ile9Val
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1204A>G
  hgvsp: ENSP00000385879.1:p.Ile402Val
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1205A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2236A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1204A>G
  hgvsp: ENSP00000385957.1:p.Ile402Val
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+63A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12311A>G
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile402Val
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: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-127646769-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646769
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646769
    reference: chr 3
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1233A>G
  hgvsp: ENST00000405109.1:c.1233A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1233A>G
  hgvsp: ENST00000405256.1:c.1233A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+92A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1234A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2207A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.54A>G
  hgvsp: ENST00000407609.3:c.54A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12340A>G
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7555
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val411Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

3-127646773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646773
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646773
    reference: chr 3
allele count: 26
allele frequency: 2.155458283591988e-4
allele num: 120624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.58C>T
  hgvsp: ENSP00000385830.3:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1237C>T
  hgvsp: ENSP00000385879.1:p.Arg413Trp
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1238C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1237C>T
  hgvsp: ENSP00000385957.1:p.Arg413Trp
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2203C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12344C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+96C>T
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg413Trp
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

3-127646774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646774
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646774
    reference: chr 3
allele count: 3
allele frequency: 2.487273450843186e-5
allele num: 120614
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1238G>A
  hgvsp: ENSP00000385957.1:p.Arg413Gln
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1238G>A
  hgvsp: ENSP00000385879.1:p.Arg413Gln
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12345G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.59G>A
  hgvsp: ENSP00000385830.3:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2202G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+97G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1239G>A
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg413Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-127646774-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646774
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646774
    reference: chr 3
allele count: 10
allele frequency: 8.29091150281062e-5
allele num: 120614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12345G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2202G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+97G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1239G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1238G>C
  hgvsp: ENSP00000385879.1:p.Arg413Pro
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1238G>C
  hgvsp: ENSP00000385957.1:p.Arg413Pro
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.59G>C
  hgvsp: ENSP00000385830.3:p.Arg20Pro
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg413Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

3-127646784-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646784
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646784
    reference: chr 3
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+107G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1248G>T
  hgvsp: ENSP00000385879.1:p.Trp416Cys
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2192G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1249G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1248G>T
  hgvsp: ENSP00000385957.1:p.Trp416Cys
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.69G>T
  hgvsp: ENSP00000385830.3:p.Trp23Cys
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12355G>T
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Trp416Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-127646792-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646792
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646792
    reference: chr 3
allele count: 2
allele frequency: 1.660026560424967e-5
allele num: 120480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12363T>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1257T>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+115T>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1256T>A
  hgvsp: ENSP00000385879.1:p.Val419Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1256T>A
  hgvsp: ENSP00000385957.1:p.Val419Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2184T>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.77T>A
  hgvsp: ENSP00000385830.3:p.Val26Glu
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val419Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

3-127646798-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646798
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646798
    reference: chr 3
allele count: 1
allele frequency: 8.301924386072691e-6
allele num: 120454
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1262C>G
  hgvsp: ENSP00000385957.1:p.Pro421Arg
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12369C>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2178C>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.83C>G
  hgvsp: ENSP00000385830.3:p.Pro28Arg
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1262C>G
  hgvsp: ENSP00000385879.1:p.Pro421Arg
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+121C>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1263C>G
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro421Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

3-127646806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646806
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646806
    reference: chr 3
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.91C>T
  hgvsp: ENST00000407609.3:c.91C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1271C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1270C>T
  hgvsp: ENST00000405256.1:c.1270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12377C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1270C>T
  hgvsp: ENST00000405109.1:c.1270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2170C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+129C>T
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu424Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-127646810-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646810
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646810
    reference: chr 3
allele count: 1
allele frequency: 8.308684236764266e-6
allele num: 120356
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1274A>G
  hgvsp: ENSP00000385957.1:p.Gln425Arg
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+133A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1274A>G
  hgvsp: ENSP00000385879.1:p.Gln425Arg
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12381A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1275A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.95A>G
  hgvsp: ENSP00000385830.3:p.Gln32Arg
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2166A>G
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln425Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-127646818-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646818
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646818
    reference: chr 3
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12389T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1282T>C
  hgvsp: ENSP00000385957.1:p.Cys428Arg
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1283T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+141T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2158T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.103T>C
  hgvsp: ENSP00000385830.3:p.Cys35Arg
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1282T>C
  hgvsp: ENSP00000385879.1:p.Cys428Arg
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys428Arg
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

3-127646819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646819
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646819
    reference: chr 3
allele count: 1
allele frequency: 8.319329129299013e-6
allele num: 120202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1283G>A
  hgvsp: ENSP00000385879.1:p.Cys428Tyr
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.104G>A
  hgvsp: ENSP00000385830.3:p.Cys35Tyr
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2157G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1283G>A
  hgvsp: ENSP00000385957.1:p.Cys428Tyr
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+142G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1284G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12390G>A
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys428Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-127646830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646830
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646830
    reference: chr 3
allele count: 2
allele frequency: 1.6679454248257e-5
allele num: 119908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1294G>A
  hgvsp: ENSP00000385879.1:p.Val432Met
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12401G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+153G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1294G>A
  hgvsp: ENSP00000385957.1:p.Val432Met
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1295G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2146G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.115G>A
  hgvsp: ENSP00000385830.3:p.Val39Met
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val432Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-127646831-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646831
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646831
    reference: chr 3
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1295T>C
  hgvsp: ENSP00000385879.1:p.Val432Ala
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1296T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.116T>C
  hgvsp: ENSP00000385830.3:p.Val39Ala
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12402T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+154T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1295T>C
  hgvsp: ENSP00000385957.1:p.Val432Ala
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2145T>C
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val432Ala
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

3-127646832-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646832
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646832
    reference: chr 3
allele count: 24
allele frequency: 2.002803925495694e-4
allele num: 119832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12403G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.117G>A
  hgvsp: ENST00000407609.3:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+155G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1297G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1296G>A
  hgvsp: ENST00000405256.1:c.1296G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2144G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1296G>A
  hgvsp: ENST00000405109.1:c.1296G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31093
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val432Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-127646863-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646863
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646863
    reference: chr 3
allele count: 24
allele frequency: 2.044571662236761e-4
allele num: 117384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12434G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.148G>C
  hgvsp: ENSP00000385830.3:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2113G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1327G>C
  hgvsp: ENSP00000385957.1:p.Gly443Arg
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1328G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+186G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1327G>C
  hgvsp: ENSP00000385879.1:p.Gly443Arg
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29302
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6810
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly443Arg
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: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

3-127646868-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646868
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646868
    reference: chr 3
allele count: 1
allele frequency: 8.636622735045688e-6
allele num: 115786
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1332G>T
  hgvsp: ENSP00000385957.1:p.Trp444Cys
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+191G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1333G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2108G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12439G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.153G>T
  hgvsp: ENSP00000385830.3:p.Trp51Cys
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1332G>T
  hgvsp: ENSP00000385879.1:p.Trp444Cys
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp444Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

3-127646890-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646890
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646890
    reference: chr 3
allele count: 1
allele frequency: 9.271621421154131e-6
allele num: 107856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+13C>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+213C>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+13C>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1355C>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12461C>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+13C>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2086C>G
  variant of: http://identifiers.org/hgnc/25731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22824
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

3-127646892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646892
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646892
    reference: chr 3
allele count: 1
allele frequency: 9.381743127873159e-6
allele num: 106590
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+15T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+215T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+15T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1357T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+15T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12463T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2084T>C
  variant of: http://identifiers.org/hgnc/25731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22217
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36174
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

3-127646905-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646905
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646905
    reference: chr 3
allele count: 1
allele frequency: 1.026504342113367e-5
allele num: 97418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+28G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12476G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+228G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1370G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2071G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+28G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+28G>C
  variant of: http://identifiers.org/hgnc/25731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28405
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

3-127646906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646906
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646906
    reference: chr 3
allele count: 1
allele frequency: 1.037150739488477e-5
allele num: 96418
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+29G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2070G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+29G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+29G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1371G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12477G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+229G>A
  variant of: http://identifiers.org/hgnc/25731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

3-127646909-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646909
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646909
    reference: chr 3
allele count: 2
allele frequency: 2.133834073062479e-5
allele num: 93728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12480T>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+32T>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1374T>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2067T>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+32T>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+32T>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+232T>G
  variant of: http://identifiers.org/hgnc/25731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15660
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-127646932-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646932
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646932
    reference: chr 3
allele count: 1
allele frequency: 1.453953299020035e-5
allele num: 68778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2044A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+55A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12503A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+55A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+55A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1397A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+255A>G
  variant of: http://identifiers.org/hgnc/25731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22501
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

3-127646939-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646939
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646939
    reference: chr 3
allele count: 1
allele frequency: 1.596831885539091e-5
allele num: 62624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+62A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12510A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1404A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2037A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+262A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+62A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+62A>G
  variant of: http://identifiers.org/hgnc/25731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4965
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-127646941-ATTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646941
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646938
    reference: chr 3
allele count: 1
allele frequency: 1.620850622406639e-5
allele num: 61696
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+69_1341+71delTGT
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2030_52-2028delTGT
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+269_66+271delTGT
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+69_162+71delTGT
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+69_1341+71delTGT
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1411_1413delTGT
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12517_112+12519delTGT
  variant of: http://identifiers.org/hgnc/25731
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: ATTG
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

3-127646944-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646944
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646944
    reference: chr 3
allele count: 1
allele frequency: 1.805314846909301e-5
allele num: 55392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2032G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+67G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1409G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+267G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+67G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12515G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+67G>A
  variant of: http://identifiers.org/hgnc/25731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36789
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

3-127646954-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646954
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646954
    reference: chr 3
allele count: 1
allele frequency: 2.062451016788351e-5
allele num: 48486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+77T>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2022T>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12525T>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1419T>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+77T>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+277T>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+77T>A
  variant of: http://identifiers.org/hgnc/25731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/3-127646958-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646958
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646958
    reference: chr 3
allele count: 32
allele frequency: 7.231965286566625e-4
allele num: 44248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2018A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  hgvsc: ENST00000497045.1:n.1423A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+81A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+81A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+81A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12529A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+281A>C
  variant of: http://identifiers.org/hgnc/25731
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15620
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24866
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

3-127646962-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646962
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646960
    reference: chr 3
allele count: 1
allele frequency: 2.523977788995457e-5
allele num: 39620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2011_52-2010delAA
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+88_1341+89delAA
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12536_112+12537delAA
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+88_162+89delAA
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+288_66+289delAA
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000497045
  gene symbol: KBTBD12
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+88_1341+89delAA
  variant of: http://identifiers.org/hgnc/25731
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24147
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15752
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: TAA
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/3-127646968-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646968
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646968
    reference: chr 3
allele count: 3
allele frequency: 8.659508139937652e-5
allele num: 34644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12539A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+91A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+291A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+91A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2008A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+91A>C
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12756
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23010
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-127646971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646971
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646971
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 32874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2005G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12542G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+294G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+94G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+94G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+94G>A
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22549
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20476
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

3-127646974-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127646974
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127646974
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 29978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+97A>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+97A>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+97A>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+297A>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12545A>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2002A>T
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21598
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-127647010-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647010
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127647010
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 9850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+12581A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1341+133A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-1966A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.162+133A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.66+333A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1341+133A>C
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17583
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6593
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9078
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

3-127648930-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648930
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648930
    reference: chr 3
allele count: 1
allele frequency: 3.728282752963984e-5
allele num: 26822
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1342-46A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1342-46A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14501A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.67-46A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-46A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.163-46A>G
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20066
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6588
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6870
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

3-127648938-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648938
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648938
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 27108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14509A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.67-38A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-38A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1342-38A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1342-38A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.163-38A>G
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19386
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5745
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20918
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

3-127648940-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648940
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648940
    reference: chr 3
allele count: 1
allele frequency: 3.678905157825031e-5
allele num: 27182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14511G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1342-36G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1342-36G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-36G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.67-36G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.163-36G>T
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5298
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20993
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

3-127648942-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648942
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648942
    reference: chr 3
allele count: 3
allele frequency: 1.097694840834248e-4
allele num: 27330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-34T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1342-34T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1342-34T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.67-34T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.163-34T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14513T>C
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24865
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20575
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20787
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3670
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/3-127648948-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648948
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648948
    reference: chr 3
allele count: 1
allele frequency: 3.610368979709727e-5
allele num: 27698
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1342-28A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.67-28A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1342-28A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.163-28A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-28A>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14519A>C
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22766
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19900
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

3-127648952-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648952
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648952
    reference: chr 3
allele count: 1
allele frequency: 3.59401955146636e-5
allele num: 27824
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1342-24T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1342-24T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.67-24T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14523T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-24T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.163-24T>C
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18896
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-127648956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648956
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648956
    reference: chr 3
allele count: 1
allele frequency: 3.517411185367569e-5
allele num: 28430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1342-20G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14527G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.67-20G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-20G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1342-20G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.163-20G>A
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17638
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-127648960-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648960
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648960
    reference: chr 3
allele count: 2
allele frequency: 6.775526797208483e-5
allele num: 29518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.67-16G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-16G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.163-16G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1342-16G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14531G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1342-16G>A
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

3-127648960-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648960
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648960
    reference: chr 3
allele count: 1
allele frequency: 3.387763398604242e-5
allele num: 29518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-16G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.163-16G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1342-16G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.67-16G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14531G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1342-16G>T
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24075
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

3-127648961-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648961
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648961
    reference: chr 3
allele count: 24
allele frequency: 8.506415254838024e-4
allele num: 28214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-15T>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.163-15T>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.67-15T>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1342-15T>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14532T>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1342-15T>G
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28012
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23115
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6085
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15537
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 3
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

3-127648969-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648969
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648969
    reference: chr 3
allele count: 6
allele frequency: 1.914364112054113e-4
allele num: 31342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-7C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1342-7C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1342-7C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14540C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.163-7C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.67-7C>T
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12766
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1342-7C>T
num of homozygotes: 1
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-127648974-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648974
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648974
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 32930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.163-2A>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1342-2A>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14545A>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.52-2A>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1342-2A>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.67-2A>T
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: splice acceptor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32354
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10814
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1342-2A>T
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/3-127648982-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648982
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648982
    reference: chr 3
allele count: 1
allele frequency: 2.814364516492176e-5
allele num: 35532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.73C>A
  hgvsp: ENSP00000345478.4:p.Leu25Ile
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1348C>A
  hgvsp: ENSP00000385879.1:p.Leu450Ile
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.169C>A
  hgvsp: ENSP00000385830.3:p.Leu57Ile
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.58C>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14553C>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1348C>A
  hgvsp: ENSP00000385957.1:p.Leu450Ile
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu450Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

3-127648983-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648983
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648983
    reference: chr 3
allele count: 2
allele frequency: 5.544466622310933e-5
allele num: 36072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.74T>C
  hgvsp: ENSP00000345478.4:p.Leu25Pro
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.59T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.170T>C
  hgvsp: ENSP00000385830.3:p.Leu57Pro
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1349T>C
  hgvsp: ENSP00000385879.1:p.Leu450Pro
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1349T>C
  hgvsp: ENSP00000385957.1:p.Leu450Pro
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14554T>C
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33947
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8045
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu450Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/3-127648997-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648997
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127648997
    reference: chr 3
allele count: 1
allele frequency: 2.407318247472316e-5
allele num: 41540
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1363C>A
  hgvsp: ENSP00000385957.1:p.Pro455Thr
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14568C>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1363C>A
  hgvsp: ENSP00000385879.1:p.Pro455Thr
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.184C>A
  hgvsp: ENSP00000385830.3:p.Pro62Thr
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.73C>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.88C>A
  hgvsp: ENSP00000345478.4:p.Pro30Thr
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5080
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro455Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-127649002-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649002
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649002
    reference: chr 3
allele count: 1
allele frequency: 2.258253918070548e-5
allele num: 44282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1368T>C
  hgvsp: ENST00000405256.1:c.1368T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.78T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1368T>C
  hgvsp: ENST00000405109.1:c.1368T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14573T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.189T>C
  hgvsp: ENST00000407609.3:c.189T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.93T>C
  hgvsp: ENST00000343941.4:c.93T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp456Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

3-127649003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649003
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649003
    reference: chr 3
allele count: 6
allele frequency: 1.344447432105405e-4
allele num: 44628
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1369C>T
  hgvsp: ENSP00000385957.1:p.Arg457Ter
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1369C>T
  hgvsp: ENSP00000385879.1:p.Arg457Ter
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.190C>T
  hgvsp: ENSP00000385830.3:p.Arg64Ter
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.94C>T
  hgvsp: ENSP00000345478.4:p.Arg32Ter
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14574C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.79C>T
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg457Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-127649004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649004
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649004
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 45696
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1370G>A
  hgvsp: ENSP00000385957.1:p.Arg457Gln
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.95G>A
  hgvsp: ENSP00000345478.4:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14575G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1370G>A
  hgvsp: ENSP00000385879.1:p.Arg457Gln
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.191G>A
  hgvsp: ENSP00000385830.3:p.Arg64Gln
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.80G>A
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33338
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg457Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

3-127649010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649010
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649010
    reference: chr 3
allele count: 39
allele frequency: 7.808433107756377e-4
allele num: 49946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1376G>A
  hgvsp: ENSP00000385879.1:p.Ser459Asn
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.101G>A
  hgvsp: ENSP00000345478.4:p.Ser34Asn
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1376G>A
  hgvsp: ENSP00000385957.1:p.Ser459Asn
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14581G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.86G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.197G>A
  hgvsp: ENSP00000385830.3:p.Ser66Asn
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32270
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11588
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12073
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Ser459Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

3-127649015-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649015
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649015
    reference: chr 3
allele count: 1
allele frequency: 1.872589041608928e-5
allele num: 53402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1381A>G
  hgvsp: ENSP00000385957.1:p.Lys461Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.202A>G
  hgvsp: ENSP00000385830.3:p.Lys68Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1381A>G
  hgvsp: ENSP00000385879.1:p.Lys461Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.91A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.106A>G
  hgvsp: ENSP00000345478.4:p.Lys36Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14586A>G
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31257
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31083
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys461Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-127649026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649026
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649026
    reference: chr 3
allele count: 4
allele frequency: 6.732873253661e-5
allele num: 59410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1392G>A
  hgvsp: ENST00000405256.1:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.102G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.117G>A
  hgvsp: ENST00000343941.4:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.213G>A
  hgvsp: ENST00000407609.3:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14597G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1392G>A
  hgvsp: ENST00000405109.1:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14704
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln464Gln
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

3-127649026-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649026
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649026
    reference: chr 3
allele count: 1
allele frequency: 1.68321831341525e-5
allele num: 59410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1392G>T
  hgvsp: ENSP00000385879.1:p.Gln464His
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14597G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.102G>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.213G>T
  hgvsp: ENSP00000385830.3:p.Gln71His
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1392G>T
  hgvsp: ENSP00000385957.1:p.Gln464His
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.117G>T
  hgvsp: ENSP00000345478.4:p.Gln39His
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln464His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

3-127649027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649027
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649027
    reference: chr 3
allele count: 2
allele frequency: 3.321707357581797e-5
allele num: 60210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.118T>C
  hgvsp: ENSP00000345478.4:p.Tyr40His
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.103T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.214T>C
  hgvsp: ENSP00000385830.3:p.Tyr72His
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1393T>C
  hgvsp: ENSP00000385957.1:p.Tyr465His
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1393T>C
  hgvsp: ENSP00000385879.1:p.Tyr465His
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14598T>C
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr465His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-127649029-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649029
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649029
    reference: chr 3
allele count: 2
allele frequency: 3.25775345321866e-5
allele num: 61392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.216T>C
  hgvsp: ENST00000407609.3:c.216T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.120T>C
  hgvsp: ENST00000343941.4:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1395T>C
  hgvsp: ENST00000405109.1:c.1395T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1395T>C
  hgvsp: ENST00000405256.1:c.1395T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.105T>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14600T>C
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr465Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/3-127649031-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649031
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649032
    reference: chr 3
allele count: 4
allele frequency: 6.403073475268129e-5
allele num: 62470
alternate allele: AC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1401dupC
  hgvsp: ENSP00000385957.1:p.Ser468GlnfsTer15
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.126dupC
  hgvsp: ENSP00000345478.4:p.Ser43GlnfsTer15
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.111dupC
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1401dupC
  hgvsp: ENSP00000385879.1:p.Ser468GlnfsTer15
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14606dupC
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.222dupC
  hgvsp: ENSP00000385830.3:p.Ser75GlnfsTer15
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27495
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Ser468GlnfsTer15
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/3-127649032-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649032
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649032
    reference: chr 3
allele count: 1
allele frequency: 1.577386585904473e-5
allele num: 63396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.219C>A
  hgvsp: ENSP00000385830.3:p.Asp73Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.108C>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.123C>A
  hgvsp: ENSP00000345478.4:p.Asp41Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1398C>A
  hgvsp: ENSP00000385879.1:p.Asp466Glu
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14603C>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1398C>A
  hgvsp: ENSP00000385957.1:p.Asp466Glu
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp466Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-127649033-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649033
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649033
    reference: chr 3
allele count: 2
allele frequency: 3.106940905983968e-5
allele num: 64372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.220C>A
  hgvsp: ENSP00000385830.3:p.Pro74Thr
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1399C>A
  hgvsp: ENSP00000385879.1:p.Pro467Thr
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1399C>A
  hgvsp: ENSP00000385957.1:p.Pro467Thr
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.124C>A
  hgvsp: ENSP00000345478.4:p.Pro42Thr
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.109C>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14604C>A
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26668
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro467Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

3-127649047-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649047
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649047
    reference: chr 3
allele count: 2
allele frequency: 2.670440889790905e-5
allele num: 74894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.138A>G
  hgvsp: ENST00000343941.4:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1413A>G
  hgvsp: ENST00000405256.1:c.1413A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1413A>G
  hgvsp: ENST00000405109.1:c.1413A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.123A>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.234A>G
  hgvsp: ENST00000407609.3:c.234A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14618A>G
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln471Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

3-127649049-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649049
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649049
    reference: chr 3
allele count: 1
allele frequency: 1.321003963011889e-5
allele num: 75700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14620G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.125G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1415G>C
  hgvsp: ENSP00000385957.1:p.Trp472Ser
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.140G>C
  hgvsp: ENSP00000345478.4:p.Trp47Ser
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1415G>C
  hgvsp: ENSP00000385879.1:p.Trp472Ser
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.236G>C
  hgvsp: ENSP00000385830.3:p.Trp79Ser
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp472Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

3-127649052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649052
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649052
    reference: chr 3
allele count: 1
allele frequency: 1.287332646755922e-5
allele num: 77680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14623G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1418G>A
  hgvsp: ENSP00000385957.1:p.Ser473Asn
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.128G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.143G>A
  hgvsp: ENSP00000345478.4:p.Ser48Asn
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1418G>A
  hgvsp: ENSP00000385879.1:p.Ser473Asn
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.239G>A
  hgvsp: ENSP00000385830.3:p.Ser80Asn
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser473Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

3-127649058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649058
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649058
    reference: chr 3
allele count: 2
allele frequency: 2.440869926041641e-5
allele num: 81938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1424G>A
  hgvsp: ENSP00000385879.1:p.Arg475Gln
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14629G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1424G>A
  hgvsp: ENSP00000385957.1:p.Arg475Gln
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.149G>A
  hgvsp: ENSP00000345478.4:p.Arg50Gln
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.245G>A
  hgvsp: ENSP00000385830.3:p.Arg82Gln
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.134G>A
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg475Gln
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

3-127649058-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649058
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649058
    reference: chr 3
allele count: 2
allele frequency: 2.440869926041641e-5
allele num: 81938
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1424G>C
  hgvsp: ENSP00000385879.1:p.Arg475Pro
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.245G>C
  hgvsp: ENSP00000385830.3:p.Arg82Pro
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14629G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1424G>C
  hgvsp: ENSP00000385957.1:p.Arg475Pro
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.134G>C
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.149G>C
  hgvsp: ENSP00000345478.4:p.Arg50Pro
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23215
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg475Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

3-127649059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649059
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649059
    reference: chr 3
allele count: 165
allele frequency: 1.989006220164907e-3
allele num: 82956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14630G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1425G>A
  hgvsp: ENST00000405109.1:c.1425G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1425G>A
  hgvsp: ENST00000405256.1:c.1425G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.246G>A
  hgvsp: ENST00000407609.3:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.135G>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.150G>A
  hgvsp: ENST00000343941.4:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 18325
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 1.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23503
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24432
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 9.75e1
  variant carriers: 163
genotype quality: GenotypeQuality
  all individuals: 19706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg475Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

3-127649067-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649067
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649067
    reference: chr 3
allele count: 1
allele frequency: 1.137604659628686e-5
allele num: 87904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.143T>A
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1433T>A
  hgvsp: ENSP00000385879.1:p.Met478Lys
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.158T>A
  hgvsp: ENSP00000345478.4:p.Met53Lys
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.254T>A
  hgvsp: ENSP00000385830.3:p.Met85Lys
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1433T>A
  hgvsp: ENSP00000385957.1:p.Met478Lys
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14638T>A
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26023
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met478Lys
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-127649067-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649067
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649067
    reference: chr 3
allele count: 1
allele frequency: 1.137604659628686e-5
allele num: 87904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.143T>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14638T>G
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1433T>G
  hgvsp: ENSP00000385957.1:p.Met478Arg
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1433T>G
  hgvsp: ENSP00000385879.1:p.Met478Arg
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.254T>G
  hgvsp: ENSP00000385830.3:p.Met85Arg
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.158T>G
  hgvsp: ENSP00000345478.4:p.Met53Arg
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met478Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

3-127649074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127649074
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127649074
    reference: chr 3
allele count: 1
allele frequency: 1.100134216374398e-5
allele num: 90898
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385957
  ensembl transcript: ENST00000405109
  gene symbol: KBTBD12
  hgvsc: ENST00000405109.1:c.1440C>T
  hgvsp: ENST00000405109.1:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000476626
  gene symbol: KBTBD12
  hgvsc: ENST00000476626.1:n.112+14645C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385830
  ensembl transcript: ENST00000407609
  gene symbol: KBTBD12
  hgvsc: ENST00000407609.3:c.261C>T
  hgvsp: ENST00000407609.3:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000385879
  ensembl transcript: ENST00000405256
  gene symbol: KBTBD12
  hgvsc: ENST00000405256.1:c.1440C>T
  hgvsp: ENST00000405256.1:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187715
  ensembl transcript: ENST00000492025
  gene symbol: KBTBD12
  hgvsc: ENST00000492025.1:n.150C>T
  variant of: http://identifiers.org/hgnc/25731
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187715
  ensembl protein: ENSP00000345478
  ensembl transcript: ENST00000343941
  gene symbol: KBTBD12
  hgvsc: ENST00000343941.4:c.165C>T
  hgvsp: ENST00000343941.4:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25731
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr480Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

GenotypeQuality
all individuals: 1763
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47260
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
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: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
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: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e0

QD
type: SiteQuality
SIO_000300: 1.555e1

FS
type: SiteQuality
SIO_000300: 9.891999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 1.601925e6

GenotypeQuality
all individuals: 7573
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 406
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.493e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.601912e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.762e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.078e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 7.37e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

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

GenotypeQuality
all individuals: 1757
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.13195977434388e-5
allele num: 16308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
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: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
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: -1.214e0

DP
type: SiteQuality
SIO_000300: 1.601528e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.38e-1

FS
type: SiteQuality
SIO_000300: 1.452e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.035e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: -3.234e0

QD
type: SiteQuality
SIO_000300: 3.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 375
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47191
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7576
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
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: 11472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

European (Finnish)
type: Population
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: 10258
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.601459e6

MQ
type: SiteQuality
SIO_000300: 5.883e1

FS
type: SiteQuality
SIO_000300: 3.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.418e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e0

VQSLOD
type: SiteQuality
SIO_000300: -8.378e-1

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47153
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 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: 10018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
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: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.738203425375742e-5
allele num: 11444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

VQSLOD
type: SiteQuality
SIO_000300: -2.262e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
SIO_000300: 6.94e0

MQRankSum
type: SiteQuality
SIO_000300: 2.32e0

DP
type: SiteQuality
SIO_000300: 1.599775e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 23
allele frequency: 3.452727654847329e-4
allele num: 66614
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.747946163258172e-4
allele num: 11442
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.59998e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 3.475e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.228e1

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1735
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.747946163258172e-4
allele num: 11442
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.002807862013638e-4
allele num: 9972
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

DP
type: SiteQuality
SIO_000300: 1.59844e6

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.336e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.343e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7556
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 377
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47157
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.479118470717156e-4
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.343e0

QD
type: SiteQuality
SIO_000300: 1.336e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.51e-1

DP
type: SiteQuality
SIO_000300: 1.59844e6

MQ
type: SiteQuality
SIO_000300: 5.991e1

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47234
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
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: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.004e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -1.104e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.597527e6

QD
type: SiteQuality
SIO_000300: 1.426e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 215
bin: 9.25e1
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: 16468
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: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.755001755001755e-4
allele num: 11396
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.341e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 1.759e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.03e-1

FS
type: SiteQuality
SIO_000300: 4.318e0

DP
type: SiteQuality
SIO_000300: 1.59636e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 1788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7527
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 767
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47254
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.771929824561403e-5
allele num: 11400
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
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: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.391e1

DP
type: SiteQuality
SIO_000300: 1.595433e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.278e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 352
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.014816318246397e-4
allele num: 9854
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.11e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.594185e6

FS
type: SiteQuality
SIO_000300: 8.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.409e0

MQ
type: SiteQuality
SIO_000300: 5.747e1

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.246e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

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

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
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: 11380
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.112e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

FS
type: SiteQuality
SIO_000300: 1.915e0

VQSLOD
type: SiteQuality
SIO_000300: 5.82e-1

DP
type: SiteQuality
SIO_000300: 1.593188e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
all individuals: 226
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47246
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.804366966015144e-5
allele num: 11358
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.356e1

DP
type: SiteQuality
SIO_000300: 1.590476e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.836e0

VQSLOD
type: SiteQuality
SIO_000300: -1.348e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.122e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7482
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47267
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.017915309446254e-4
allele num: 9824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.590471e6

MQRankSum
type: SiteQuality
SIO_000300: -1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.335e1

FS
type: SiteQuality
SIO_000300: 6.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.283e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

GenotypeQuality
all individuals: 723
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7417
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 7.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018959062915107e-5
allele num: 66248
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 7.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

DP
type: SiteQuality
SIO_000300: 1.583461e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.129e0

FS
type: SiteQuality
SIO_000300: 1.271e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.58e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.75e-1

GenotypeQuality
all individuals: 720
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46872
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.581887e6

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

QD
type: SiteQuality
SIO_000300: 1.361e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.352e0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.625268118787952e-4
allele num: 66202
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

QD
type: SiteQuality
SIO_000300: 1.323e1

FS
type: SiteQuality
SIO_000300: 1.216e0

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.367e0

DP
type: SiteQuality
SIO_000300: 1.58179e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 45401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 9.038322487346348e-4
allele num: 11064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.007597986224789e-4
allele num: 64754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

QD
type: SiteQuality
SIO_000300: 1.235e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

DP
type: SiteQuality
SIO_000300: 1.530087e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.26e0

GenotypeQuality
all individuals: 416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1325
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.28140703517588e-5
allele num: 15920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.985e0

FS
type: SiteQuality
SIO_000300: 1.0598e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 1.499335e6

MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.534e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 922
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10304
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 632
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37166
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.688105607886829e-5
allele num: 59238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.671e0

FS
type: SiteQuality
SIO_000300: 3.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

DP
type: SiteQuality
SIO_000300: 1.35335e6

QD
type: SiteQuality
SIO_000300: 1.342e1

GenotypeQuality
all individuals: 314
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 979
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5055
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.811989100817439e-5
allele num: 14680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e0

QD
type: SiteQuality
SIO_000300: 1.177e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.317e0

FS
type: SiteQuality
SIO_000300: 2.341e0

DP
type: SiteQuality
SIO_000300: 1.333041e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18755
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.472724555372888e-5
allele num: 13382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.162e1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.335e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.733e0

DP
type: SiteQuality
SIO_000300: 1.190881e6

FS
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 512
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3911
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.891718058340585e-5
allele num: 52862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7028
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13262
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.178217e6

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 1.404e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.278e0

FS
type: SiteQuality
SIO_000300: 4.959e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQ
type: SiteQuality
SIO_000300: 5.182e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

GenotypeQuality
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25087
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12882
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.890293717175647e-5
allele num: 51410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.854e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

FS
type: SiteQuality
SIO_000300: 1.664e0

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.132558e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 383
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35995
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3242
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.058425063505504e-4
allele num: 9448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5154
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 8.13015e5

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

QD
type: SiteQuality
SIO_000300: 1.475e1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1848
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 966
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4424
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.182453077258839e-4
allele num: 4582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.473e0

MQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.626e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.47308e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

QD
type: SiteQuality
SIO_000300: 8.52e0

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5282
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.67897918065816e-4
allele num: 5956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

MQ
type: SiteQuality
SIO_000300: 4.712e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.377e0

DP
type: SiteQuality
SIO_000300: 7.36585e5

MQRankSum
type: SiteQuality
SIO_000300: -2.621e0

GenotypeQuality
all individuals: 175
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.353229159680773e-5
allele num: 29822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4138
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.419e1

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.343e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.84297e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.416e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.84e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

GenotypeQuality
all individuals: 779
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10475
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 200
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6716
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.211303789338471e-4
allele num: 3114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3856
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.555e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.934e0

DP
type: SiteQuality
SIO_000300: 6.21368e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

QD
type: SiteQuality
SIO_000300: 1.267e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

GenotypeQuality
all individuals: 13052
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 200
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 202
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 34313
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

African
type: Population
allele count: 32
allele frequency: 7.017543859649123e-3
allele num: 4560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3254
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 5.85495e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.56e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

QD
type: SiteQuality
SIO_000300: 1.46e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32058
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.405002405002405e-4
allele num: 4158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2234
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 6.119e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 5.50009e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.04e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

GenotypeQuality
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 890
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2737
bin: 6.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.07828337287039e-4
allele num: 18548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.101736972704715e-4
allele num: 3224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3730
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.766e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.54e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

DP
type: SiteQuality
SIO_000300: 5.06776e5

QD
type: SiteQuality
SIO_000300: 7.25e0

VQSLOD
type: SiteQuality
SIO_000300: -1.619e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1829
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3558
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-2

QD
type: SiteQuality
SIO_000300: 7.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.928e-1

DP
type: SiteQuality
SIO_000300: 4.91505e5

GenotypeQuality
all individuals: 1842
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25804
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 6.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3840
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.16e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.827e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 4.66472e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6681
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1168
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1880
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.56e-1

DP
type: SiteQuality
SIO_000300: 2.96302e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -1.218e0

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.26e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.61e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
all individuals: 405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1365
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3398
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12068
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.46e0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.468e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.19171e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.14e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

QD
type: SiteQuality
SIO_000300: 4.22e0

GenotypeQuality
all individuals: 439
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4241
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.4085e5

VQSLOD
type: SiteQuality
SIO_000300: -2.602e0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e0

QD
type: SiteQuality
SIO_000300: 5.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4632
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1812
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.149959250203749e-5
allele num: 12270
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.48108e5

MQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.378e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.764e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.82e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

QD
type: SiteQuality
SIO_000300: 4.02e0

GenotypeQuality
all individuals: 260
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5003
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 444
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 2.42914979757085e-4
allele num: 12350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 3.241e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.71e-2

QD
type: SiteQuality
SIO_000300: 1.384e1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 5.53521e5

GenotypeQuality
all individuals: 2479
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3856
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.002004008016032e-3
allele num: 998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.52e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.417e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.015e1

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 2.251e0

DP
type: SiteQuality
SIO_000300: 5.74835e5

GenotypeQuality
all individuals: 20081
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1818
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.933989209774674e-5
allele num: 12604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.268e0

VQSLOD
type: SiteQuality
SIO_000300: -2.13e0

FS
type: SiteQuality
SIO_000300: 9.65e0

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.91076e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-1

QD
type: SiteQuality
SIO_000300: 2.033e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.31e-2

GenotypeQuality
all individuals: 976
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6000
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1858
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.808988764044944e-4
allele num: 3560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.135e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.14e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.43e-1

QD
type: SiteQuality
SIO_000300: 1.5e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.231e0

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

DP
type: SiteQuality
SIO_000300: 6.067e5

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24075
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6249
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.234567901234568e-4
allele num: 8100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.361601884570082e-5
allele num: 13584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.775e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

QD
type: SiteQuality
SIO_000300: 1.355e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.45e-1

FS
type: SiteQuality
SIO_000300: 1.9119e1

DP
type: SiteQuality
SIO_000300: 6.23413e5

VQSLOD
type: SiteQuality
SIO_000300: -1.993e0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2344
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.361601884570082e-5
allele num: 13584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.23413e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.45e-1

FS
type: SiteQuality
SIO_000300: 1.9119e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.39e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.775e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.993e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 1187
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2409
bin: 1.25e1
variant carriers: 10

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 1.803638644918444e-3
allele num: 12752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.990430622009569e-4
allele num: 3344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

FS
type: SiteQuality
SIO_000300: 7.592400000000001e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

QD
type: SiteQuality
SIO_000300: 4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.297e0

VQSLOD
type: SiteQuality
SIO_000300: -2.678e1

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
SIO_000300: 6.27368e5

GenotypeQuality
all individuals: 1692
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1984
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 7.235890014471779e-4
allele num: 8292
num of homozygotes: 1

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 6.43088e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.425e0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3992
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 6.63807e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.895e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 8.19e0

GenotypeQuality
all individuals: 1588
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8137
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8405
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.898313082458417e-5
allele num: 16954
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.93497e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 8.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -8.424e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.158614297300429e-4
allele num: 17262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1338
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

DP
type: SiteQuality
SIO_000300: 6.98292e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1763
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.895721139723881e-5
allele num: 20426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

DP
type: SiteQuality
SIO_000300: 7.48608e5

FS
type: SiteQuality
SIO_000300: 3.136e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.373e0

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.827e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.355e0

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

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10180
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22030
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.964636542239686e-4
allele num: 5090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2818
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.527e1

QD
type: SiteQuality
SIO_000300: 1.448e1

VQSLOD
type: SiteQuality
SIO_000300: -9.485e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 7.67749e5

MQRankSum
type: SiteQuality
SIO_000300: -1.333e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
all individuals: 229
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32402
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 297
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 718
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.090750436300175e-4
allele num: 9168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22208
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.479471120389701e-4
allele num: 2874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2712
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 1.863932898415657e-3
allele num: 2146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.503e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.73852e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

GenotypeQuality
all individuals: 32399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3870
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2222
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 7.83034e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.352e0

FS
type: SiteQuality
SIO_000300: 1.871e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 311
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2999
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 9.75e1
variant carriers: 43

GenotypeQuality
all individuals: 1861
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31773
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1769
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 1.462334993281164e-3
allele num: 25302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.779289493575208e-4
allele num: 2646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3398
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.778726431874778e-4
allele num: 5622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3006
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.1428e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

QD
type: SiteQuality
SIO_000300: 1.394e1

GenotypeQuality
all individuals: 540
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.690902942171119e-4
allele num: 5914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3000
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.986e0

DP
type: SiteQuality
SIO_000300: 8.36854e5

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 7.546e0

QD
type: SiteQuality
SIO_000300: 4.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 1943
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15034
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29084
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 811
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.235827077400984e-5
allele num: 30904
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.693366708385482e-4
allele num: 6392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4322
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.83752e5

GenotypeQuality
all individuals: 811
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29084
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30904
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.313743637204998e-4
allele num: 4322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3520
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

DP
type: SiteQuality
SIO_000300: 8.83752e5

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

GenotypeQuality
all individuals: 822
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31348
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.559963520291838e-4
allele num: 4386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.8791e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

GenotypeQuality
all individuals: 28526
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3624
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.438526409232135e-4
allele num: 4506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3782
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.606e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

QD
type: SiteQuality
SIO_000300: 1.1e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

DP
type: SiteQuality
SIO_000300: 8.96714e5

GenotypeQuality
all individuals: 15361
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2142
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27805
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 8.688097306689834e-4
allele num: 4604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3692
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 1.726e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.154e1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.179e0

DP
type: SiteQuality
SIO_000300: 9.06932e5

GenotypeQuality
all individuals: 226
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16287
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 9.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.01659125188537e-5
allele num: 33150
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.818e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

VQSLOD
type: SiteQuality
SIO_000300: -2.672e0

DP
type: SiteQuality
SIO_000300: 9.14353e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
all individuals: 210
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 633
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6804
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.892863903085368e-4
allele num: 10566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4780
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.58e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.461e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 2.539e0

DP
type: SiteQuality
SIO_000300: 9.22075e5

GenotypeQuality
all individuals: 895
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2263
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4334
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.77210703526493e-4
allele num: 11286
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

FS
type: SiteQuality
SIO_000300: 5.193e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.32e1

DP
type: SiteQuality
SIO_000300: 1.002752e6

GenotypeQuality
all individuals: 139
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20355
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.472799208704253e-5
allele num: 40440
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.174e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.297e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 1.0109e6

GenotypeQuality
all individuals: 775
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 694
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22084
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5936
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.729050279329609e-5
allele num: 11456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4488
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41648
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

DP
type: SiteQuality
SIO_000300: 1.025576e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

GenotypeQuality
all individuals: 721
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19952
bin: 2.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44184
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.477449983045101e-5
allele num: 11796
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

DP
type: SiteQuality
SIO_000300: 1.06407e6

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

FS
type: SiteQuality
SIO_000300: 1.221e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 311
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.526525439072967e-5
allele num: 44184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

FS
type: SiteQuality
SIO_000300: 1.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.06407e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1686
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 725
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 6.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 140
allele frequency: 3.124442063917157e-3
allele num: 44808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.052188552188552e-3
allele num: 4752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.618122977346278e-3
allele num: 618
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.954887218045113e-3
allele num: 6650
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 7.520681875156681e-4
allele num: 7978
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11854
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

DP
type: SiteQuality
SIO_000300: 1.070581e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12200
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.374759417102007e-4
allele num: 7274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47760
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

FS
type: SiteQuality
SIO_000300: 5.307e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.116e1

DP
type: SiteQuality
SIO_000300: 1.113013e6

GenotypeQuality
all individuals: 1510
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6702
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5044
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.19672131147541e-5
allele num: 12200
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

FS
type: SiteQuality
SIO_000300: 5.307e0

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.113013e6

GenotypeQuality
all individuals: 1410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.445504481063891e-4
allele num: 6918
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.143663e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.344e0

VQSLOD
type: SiteQuality
SIO_000300: -3.112e0

QD
type: SiteQuality
SIO_000300: 2.856e1